Canonical Allele Identifier: CA388400233

Gene: ABCC4

Linked Data

• dbSNP Id: rs2139572842
• gnomAD v4: 13-95170574-C-A
• MyVariant Identifiers: chr13:g.95822828C>A (hg19) ; chr13:g.95170574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170574C>A , CM000675.2:g.95170574C>A	GRCh38
NC_000013.10:g.95822828C>A , CM000675.1:g.95822828C>A	GRCh37
NC_000013.9:g.94620829C>A	NCBI36
NG_050651.1:g.135873G>T
NG_050651.2:g.135873G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1815G>T	ENSP00000493766.1:n.*1815G>T
ENST00000643051.1:c.1782G>T	ENSP00000495513.1:p.Leu594Phe
ENST00000643556.1:c.1923G>T	ENSP00000494938.1:n.1923G>T
ENST00000643816.1:n.2065G>T
ENST00000643842.1:c.*1828G>T	ENSP00000493861.1:n.*1828G>T
ENST00000644471.1:n.1873G>T
ENST00000645237.2:c.1782G>T MANE Select	ENSP00000494609.1:p.Leu594Phe
ENST00000645532.1:c.1821G>T	ENSP00000494431.1:p.Leu607Phe
ENST00000646439.1:c.1782G>T	ENSP00000494751.1:p.Leu594Phe
ENST00000376887.8:c.1782G>T	ENSP00000366084.4:p.Leu594Phe
ENST00000536256.3:c.1557G>T	ENSP00000442024.1:p.Leu519Phe
ENST00000629385.1:c.1782G>T	ENSP00000487081.1:p.Leu594Phe
NM_001105515.2:c.1782G>T	NP_001098985.1:p.Leu594Phe
NM_001301829.1:c.1782G>T	NP_001288758.1:p.Leu594Phe
NM_001301830.1:c.1557G>T	NP_001288759.1:p.Leu519Phe
NM_005845.4:c.1782G>T	NP_005836.2:p.Leu594Phe
XM_005254025.2:c.1653G>T	XP_005254082.1:p.Leu551Phe
XM_006719914.1:c.1692G>T	XP_006719977.1:p.Leu564Phe
XM_011521047.1:c.1233G>T	XP_011519349.1:p.Leu411Phe
XM_017020319.1:c.1653G>T	XP_016875808.1:p.Leu551Phe
XM_017020320.2:c.1782G>T	XP_016875809.1:p.Leu594Phe
XM_017020321.1:c.267G>T	XP_016875810.1:p.Leu89Phe
XM_017020322.1:c.1653G>T	XP_016875811.1:p.Leu551Phe
NM_001105515.3:c.1782G>T	NP_001098985.1:p.Leu594Phe
NM_001301829.2:c.1782G>T	NP_001288758.1:p.Leu594Phe
NM_001301830.2:c.1557G>T	NP_001288759.1:p.Leu519Phe
NM_005845.5:c.1782G>T MANE Select	NP_005836.2:p.Leu594Phe