Canonical Allele Identifier: CA7266668

Gene: ABCD4

Linked Data

• ClinVar Variation Id: 380506
• ClinVar RCV Id: RCV000443830 ; RCV001516296
• dbSNP Id: rs74061801
• ExAC: 14:74754503 G / A
• gnomAD v2: 14-74754503-G-A
• gnomAD v3: 14-74287800-G-A
• gnomAD v4: 14-74287800-G-A
• MyVariant Identifiers: chr14:g.74754503G>A (hg19) ; chr14:g.74287800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74287800G>A , CM000676.2:g.74287800G>A	GRCh38
NC_000014.8:g.74754503G>A , CM000676.1:g.74754503G>A	GRCh37
NC_000014.7:g.73824256G>A	NCBI36
NG_032875.1:g.20265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356924.9:c.1636+10C>T MANE Select	ENSP00000349396.4:n.1636+10C>T
ENST00000356924.8:c.1636+10C>T	ENSP00000349396.4:n.1636+10C>T
ENST00000465085.2:n.832+10C>T
ENST00000474270.1:c.687+10C>T
ENST00000481348.5:c.527+10C>T
ENST00000481935.5:c.*1337+10C>T	ENSP00000436782.1:n.*1337+10C>T
ENST00000553486.5:c.*1337+10C>T	ENSP00000450611.1:n.*1337+10C>T
ENST00000553745.5:c.*1346+10C>T	ENSP00000451778.1:n.*1346+10C>T
ENST00000555904.1:c.183+10C>T
ENST00000556517.1:c.527+10C>T
NM_005050.3:c.1636+10C>T	NP_005041.1:n.1636+10C>T
NR_003256.2:n.1660+10C>T
XM_005267939.2:c.1222+10C>T	XP_005267996.1:n.1222+10C>T
XM_005267940.2:c.1222+10C>T	XP_005267997.1:n.1222+10C>T
XM_005267941.3:c.1222+10C>T	XP_005267998.1:n.1222+10C>T
XM_005267942.3:c.1222+10C>T	XP_005267999.1:n.1222+10C>T
XM_005267946.2:c.1159+10C>T	XP_005268003.1:n.1159+10C>T
XM_005267949.2:c.1159+10C>T	XP_005268006.1:n.1159+10C>T
XM_005267953.2:c.847+10C>T	XP_005268010.1:n.847+10C>T
XM_006720223.1:c.1375+10C>T	XP_006720286.1:n.1375+10C>T
XM_011537041.1:c.1363+10C>T	XP_011535343.1:n.1363+10C>T
XM_011537042.1:c.1159+10C>T	XP_011535344.1:n.1159+10C>T
XM_011537043.1:c.847+10C>T	XP_011535345.1:n.847+10C>T
XR_245710.2:n.1629+10C>T
NM_001353591.1:c.1510+10C>T	NP_001340520.1:n.1510+10C>T
NM_001353592.1:c.1510+10C>T	NP_001340521.1:n.1510+10C>T
NM_001353593.1:c.1375+10C>T	NP_001340522.1:n.1375+10C>T
NM_001353594.1:c.1324+10C>T	NP_001340523.1:n.1324+10C>T
NM_001353595.1:c.1222+10C>T	NP_001340524.1:n.1222+10C>T
NM_001353596.1:c.1222+10C>T	NP_001340525.1:n.1222+10C>T
NM_001353597.1:c.1171+10C>T	NP_001340526.1:n.1171+10C>T
NM_001353598.1:c.1159+10C>T	NP_001340527.1:n.1159+10C>T
NM_001353599.1:c.1159+10C>T	NP_001340528.1:n.1159+10C>T
NM_001353600.1:c.1159+10C>T	NP_001340529.1:n.1159+10C>T
NM_001353601.1:c.1159+10C>T	NP_001340530.1:n.1159+10C>T
NM_001353602.1:c.847+10C>T	NP_001340531.1:n.847+10C>T
NM_001353603.1:c.847+10C>T	NP_001340532.1:n.847+10C>T
NM_001353604.1:c.847+10C>T	NP_001340533.1:n.847+10C>T
NM_001353605.1:c.847+10C>T	NP_001340534.1:n.847+10C>T
NM_001353606.1:c.847+10C>T	NP_001340535.1:n.847+10C>T
NM_001353607.1:c.847+10C>T	NP_001340536.1:n.847+10C>T
NM_001353608.1:c.847+10C>T	NP_001340537.1:n.847+10C>T
NM_001353609.1:c.847+10C>T	NP_001340538.1:n.847+10C>T
NM_001353610.1:c.903+10C>T	NP_001340539.1:n.903+10C>T
NM_020324.2:c.1159+10C>T	NP_064720.1:n.1159+10C>T
NM_020325.2:c.1636+10C>T	NP_064730.1:n.1636+10C>T
NR_148466.1:n.1596+10C>T
NR_148467.1:n.1377+10C>T
NR_148468.1:n.1354+10C>T
NR_148469.1:n.1601+10C>T
NR_148470.1:n.1563+10C>T
NR_148471.1:n.1601+10C>T
NR_148472.1:n.1650+10C>T
NR_148473.1:n.1577+10C>T
NR_148474.1:n.1696+10C>T
XM_005267940.3:c.1222+10C>T	XP_005267997.1:n.1222+10C>T
XM_005267942.4:c.1222+10C>T	XP_005267999.1:n.1222+10C>T
XM_011537041.2:c.1363+10C>T	XP_011535343.1:n.1363+10C>T
XM_017021531.2:c.1692+10C>T	XP_016877020.1:n.1692+10C>T
XM_017021534.1:c.1024+10C>T	XP_016877023.1:n.1024+10C>T
XM_017021539.1:c.847+10C>T	XP_016877028.1:n.847+10C>T
XM_017021540.2:c.847+10C>T	XP_016877029.1:n.847+10C>T
XM_017021541.2:c.847+10C>T	XP_016877030.1:n.847+10C>T
XM_017021542.1:c.847+10C>T	XP_016877031.1:n.847+10C>T
XM_024449675.1:c.1249+10C>T	XP_024305443.1:n.1249+10C>T
XM_024449676.1:c.1159+10C>T	XP_024305444.1:n.1159+10C>T
XM_024449677.1:c.1159+10C>T	XP_024305445.1:n.1159+10C>T
XM_024449678.1:c.847+10C>T	XP_024305446.1:n.847+10C>T
XM_024449679.1:c.847+10C>T	XP_024305447.1:n.847+10C>T
XR_001750476.2:n.1767+10C>T
XR_001750478.2:n.2139+10C>T
XR_001750480.2:n.1675+10C>T
XR_001750482.1:n.1702+10C>T
XR_001750484.1:n.2019+10C>T
XR_002957565.1:n.1661+10C>T
XR_245710.4:n.1619+10C>T
XR_943500.3:n.2231+10C>T
NM_005050.4:c.1636+10C>T MANE Select	NP_005041.1:n.1636+10C>T
NM_001353591.2:c.1510+10C>T	NP_001340520.1:n.1510+10C>T
NM_001353592.2:c.1510+10C>T	NP_001340521.1:n.1510+10C>T
NM_001353593.2:c.1375+10C>T	NP_001340522.1:n.1375+10C>T
NM_001353594.2:c.1324+10C>T	NP_001340523.1:n.1324+10C>T
NM_001353595.2:c.1222+10C>T	NP_001340524.1:n.1222+10C>T
NM_001353596.2:c.1222+10C>T	NP_001340525.1:n.1222+10C>T
NM_001353597.2:c.1171+10C>T	NP_001340526.1:n.1171+10C>T
NM_001353598.2:c.1159+10C>T	NP_001340527.1:n.1159+10C>T
NM_001353599.2:c.1159+10C>T	NP_001340528.1:n.1159+10C>T
NM_001353600.2:c.1159+10C>T	NP_001340529.1:n.1159+10C>T
NM_001353601.2:c.1159+10C>T	NP_001340530.1:n.1159+10C>T
NM_001353602.2:c.847+10C>T	NP_001340531.1:n.847+10C>T
NM_001353603.2:c.847+10C>T	NP_001340532.1:n.847+10C>T
NM_001353604.2:c.847+10C>T	NP_001340533.1:n.847+10C>T
NM_001353605.2:c.847+10C>T	NP_001340534.1:n.847+10C>T
NM_001353606.2:c.847+10C>T	NP_001340535.1:n.847+10C>T
NM_001353607.2:c.847+10C>T	NP_001340536.1:n.847+10C>T
NM_001353608.2:c.847+10C>T	NP_001340537.1:n.847+10C>T
NM_001353609.2:c.847+10C>T	NP_001340538.1:n.847+10C>T
NM_001353610.2:c.903+10C>T	NP_001340539.1:n.903+10C>T
NM_020324.3:c.1159+10C>T	NP_064720.1:n.1159+10C>T
NM_020325.3:c.1636+10C>T	NP_064730.1:n.1636+10C>T
NR_003256.3:n.1530+10C>T
NR_148466.2:n.1466+10C>T
NR_148467.2:n.1247+10C>T
NR_148468.2:n.1224+10C>T
NR_148469.2:n.1471+10C>T
NR_148470.2:n.1433+10C>T
NR_148471.2:n.1471+10C>T
NR_148472.2:n.1520+10C>T
NR_148473.2:n.1447+10C>T
NR_148474.2:n.1566+10C>T