Canonical Allele Identifier: CA388400106

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95822792C>G (hg19) ; chr13:g.95170538C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170538C>G , CM000675.2:g.95170538C>G	GRCh38
NC_000013.10:g.95822792C>G , CM000675.1:g.95822792C>G	GRCh37
NC_000013.9:g.94620793C>G	NCBI36
NG_050651.1:g.135909G>C
NG_050651.2:g.135909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1851G>C	ENSP00000493766.1:n.*1851G>C
ENST00000643051.1:c.1818G>C	ENSP00000495513.1:p.Leu606Phe
ENST00000643556.1:c.1959G>C	ENSP00000494938.1:n.1959G>C
ENST00000643816.1:n.2101G>C
ENST00000643842.1:c.*1864G>C	ENSP00000493861.1:n.*1864G>C
ENST00000644471.1:n.1909G>C
ENST00000645237.2:c.1818G>C MANE Select	ENSP00000494609.1:p.Leu606Phe
ENST00000645532.1:c.1857G>C	ENSP00000494431.1:p.Leu619Phe
ENST00000646439.1:c.1818G>C	ENSP00000494751.1:p.Leu606Phe
ENST00000376887.8:c.1818G>C	ENSP00000366084.4:p.Leu606Phe
ENST00000536256.3:c.1593G>C	ENSP00000442024.1:p.Leu531Phe
ENST00000629385.1:c.1818G>C	ENSP00000487081.1:p.Leu606Phe
NM_001105515.2:c.1818G>C	NP_001098985.1:p.Leu606Phe
NM_001301829.1:c.1818G>C	NP_001288758.1:p.Leu606Phe
NM_001301830.1:c.1593G>C	NP_001288759.1:p.Leu531Phe
NM_005845.4:c.1818G>C	NP_005836.2:p.Leu606Phe
XM_005254025.2:c.1689G>C	XP_005254082.1:p.Leu563Phe
XM_006719914.1:c.1728G>C	XP_006719977.1:p.Leu576Phe
XM_011521047.1:c.1269G>C	XP_011519349.1:p.Leu423Phe
XM_017020319.1:c.1689G>C	XP_016875808.1:p.Leu563Phe
XM_017020320.2:c.1818G>C	XP_016875809.1:p.Leu606Phe
XM_017020321.1:c.303G>C	XP_016875810.1:p.Leu101Phe
XM_017020322.1:c.1689G>C	XP_016875811.1:p.Leu563Phe
NM_001105515.3:c.1818G>C	NP_001098985.1:p.Leu606Phe
NM_001301829.2:c.1818G>C	NP_001288758.1:p.Leu606Phe
NM_001301830.2:c.1593G>C	NP_001288759.1:p.Leu531Phe
NM_005845.5:c.1818G>C MANE Select	NP_005836.2:p.Leu606Phe