Canonical Allele Identifier: CA388402588

Gene: ABCC4

Linked Data

• dbSNP Id: rs2038073140
• gnomAD v4: 13-95186706-T-C
• MyVariant Identifiers: chr13:g.95838960T>C (hg19) ; chr13:g.95186706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186706T>C , CM000675.2:g.95186706T>C	GRCh38
NC_000013.10:g.95838960T>C , CM000675.1:g.95838960T>C	GRCh37
NC_000013.9:g.94636961T>C	NCBI36
NG_050651.1:g.119741A>G
NG_050651.2:g.119741A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*1573A>G	ENSP00000493766.1:n.*1573A>G
ENST00000643051.1:c.1540A>G	ENSP00000495513.1:p.Lys514Glu
ENST00000643556.1:c.1681A>G	ENSP00000494938.1:n.1681A>G
ENST00000643816.1:n.1823A>G
ENST00000643842.1:c.*1586A>G	ENSP00000493861.1:n.*1586A>G
ENST00000644471.1:n.1636A>G
ENST00000645237.2:c.1540A>G MANE Select	ENSP00000494609.1:p.Lys514Glu
ENST00000645532.1:c.1579A>G	ENSP00000494431.1:p.Lys527Glu
ENST00000646439.1:c.1540A>G	ENSP00000494751.1:p.Lys514Glu
ENST00000376887.8:c.1540A>G	ENSP00000366084.4:p.Lys514Glu
ENST00000536256.3:c.1315A>G	ENSP00000442024.1:p.Lys439Glu
ENST00000629385.1:c.1540A>G	ENSP00000487081.1:p.Lys514Glu
NM_001105515.2:c.1540A>G	NP_001098985.1:p.Lys514Glu
NM_001301829.1:c.1540A>G	NP_001288758.1:p.Lys514Glu
NM_001301830.1:c.1315A>G	NP_001288759.1:p.Lys439Glu
NM_005845.4:c.1540A>G	NP_005836.2:p.Lys514Glu
XM_005254025.2:c.1411A>G	XP_005254082.1:p.Lys471Glu
XM_006719914.1:c.1450A>G	XP_006719977.1:p.Lys484Glu
XM_011521047.1:c.991A>G	XP_011519349.1:p.Lys331Glu
XM_017020319.1:c.1411A>G	XP_016875808.1:p.Lys471Glu
XM_017020320.2:c.1540A>G	XP_016875809.1:p.Lys514Glu
XM_017020322.1:c.1411A>G	XP_016875811.1:p.Lys471Glu
NM_001105515.3:c.1540A>G	NP_001098985.1:p.Lys514Glu
NM_001301829.2:c.1540A>G	NP_001288758.1:p.Lys514Glu
NM_001301830.2:c.1315A>G	NP_001288759.1:p.Lys439Glu
NM_005845.5:c.1540A>G MANE Select	NP_005836.2:p.Lys514Glu