Canonical Allele Identifier: CA388400211

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95170564-T-G
• MyVariant Identifiers: chr13:g.95822818T>G (hg19) ; chr13:g.95170564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170564T>G , CM000675.2:g.95170564T>G	GRCh38
NC_000013.10:g.95822818T>G , CM000675.1:g.95822818T>G	GRCh37
NC_000013.9:g.94620819T>G	NCBI36
NG_050651.1:g.135883A>C
NG_050651.2:g.135883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1825A>C	ENSP00000493766.1:n.*1825A>C
ENST00000643051.1:c.1792A>C	ENSP00000495513.1:p.Lys598Gln
ENST00000643556.1:c.1933A>C	ENSP00000494938.1:n.1933A>C
ENST00000643816.1:n.2075A>C
ENST00000643842.1:c.*1838A>C	ENSP00000493861.1:n.*1838A>C
ENST00000644471.1:n.1883A>C
ENST00000645237.2:c.1792A>C MANE Select	ENSP00000494609.1:p.Lys598Gln
ENST00000645532.1:c.1831A>C	ENSP00000494431.1:p.Lys611Gln
ENST00000646439.1:c.1792A>C	ENSP00000494751.1:p.Lys598Gln
ENST00000376887.8:c.1792A>C	ENSP00000366084.4:p.Lys598Gln
ENST00000536256.3:c.1567A>C	ENSP00000442024.1:p.Lys523Gln
ENST00000629385.1:c.1792A>C	ENSP00000487081.1:p.Lys598Gln
NM_001105515.2:c.1792A>C	NP_001098985.1:p.Lys598Gln
NM_001301829.1:c.1792A>C	NP_001288758.1:p.Lys598Gln
NM_001301830.1:c.1567A>C	NP_001288759.1:p.Lys523Gln
NM_005845.4:c.1792A>C	NP_005836.2:p.Lys598Gln
XM_005254025.2:c.1663A>C	XP_005254082.1:p.Lys555Gln
XM_006719914.1:c.1702A>C	XP_006719977.1:p.Lys568Gln
XM_011521047.1:c.1243A>C	XP_011519349.1:p.Lys415Gln
XM_017020319.1:c.1663A>C	XP_016875808.1:p.Lys555Gln
XM_017020320.2:c.1792A>C	XP_016875809.1:p.Lys598Gln
XM_017020321.1:c.277A>C	XP_016875810.1:p.Lys93Gln
XM_017020322.1:c.1663A>C	XP_016875811.1:p.Lys555Gln
NM_001105515.3:c.1792A>C	NP_001098985.1:p.Lys598Gln
NM_001301829.2:c.1792A>C	NP_001288758.1:p.Lys598Gln
NM_001301830.2:c.1567A>C	NP_001288759.1:p.Lys523Gln
NM_005845.5:c.1792A>C MANE Select	NP_005836.2:p.Lys598Gln