Canonical Allele Identifier: CA388403158

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95839118T>G (hg19) ; chr13:g.95186864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186864T>G , CM000675.2:g.95186864T>G	GRCh38
NC_000013.10:g.95839118T>G , CM000675.1:g.95839118T>G	GRCh37
NC_000013.9:g.94637119T>G	NCBI36
NG_050651.1:g.119583A>C
NG_050651.2:g.119583A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1415A>C	ENSP00000493766.1:n.*1415A>C
ENST00000643051.1:c.1382A>C	ENSP00000495513.1:p.Glu461Ala
ENST00000643556.1:c.1523A>C	ENSP00000494938.1:n.1523A>C
ENST00000643816.1:n.1665A>C
ENST00000643842.1:c.*1428A>C	ENSP00000493861.1:n.*1428A>C
ENST00000644471.1:n.1478A>C
ENST00000645237.2:c.1382A>C MANE Select	ENSP00000494609.1:p.Glu461Ala
ENST00000645532.1:c.1421A>C	ENSP00000494431.1:p.Glu474Ala
ENST00000646439.1:c.1382A>C	ENSP00000494751.1:p.Glu461Ala
ENST00000376887.8:c.1382A>C	ENSP00000366084.4:p.Glu461Ala
ENST00000536256.3:c.1157A>C	ENSP00000442024.1:p.Glu386Ala
ENST00000629385.1:c.1382A>C	ENSP00000487081.1:p.Glu461Ala
NM_001105515.2:c.1382A>C	NP_001098985.1:p.Glu461Ala
NM_001301829.1:c.1382A>C	NP_001288758.1:p.Glu461Ala
NM_001301830.1:c.1157A>C	NP_001288759.1:p.Glu386Ala
NM_005845.4:c.1382A>C	NP_005836.2:p.Glu461Ala
XM_005254025.2:c.1253A>C	XP_005254082.1:p.Glu418Ala
XM_006719914.1:c.1292A>C	XP_006719977.1:p.Glu431Ala
XM_011521047.1:c.833A>C	XP_011519349.1:p.Glu278Ala
XM_017020319.1:c.1253A>C	XP_016875808.1:p.Glu418Ala
XM_017020320.2:c.1382A>C	XP_016875809.1:p.Glu461Ala
XM_017020322.1:c.1253A>C	XP_016875811.1:p.Glu418Ala
NM_001105515.3:c.1382A>C	NP_001098985.1:p.Glu461Ala
NM_001301829.2:c.1382A>C	NP_001288758.1:p.Glu461Ala
NM_001301830.2:c.1157A>C	NP_001288759.1:p.Glu386Ala
NM_005845.5:c.1382A>C MANE Select	NP_005836.2:p.Glu461Ala