Canonical Allele Identifier: CA388400319

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95822864C>G (hg19) ; chr13:g.95170610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170610C>G , CM000675.2:g.95170610C>G	GRCh38
NC_000013.10:g.95822864C>G , CM000675.1:g.95822864C>G	GRCh37
NC_000013.9:g.94620865C>G	NCBI36
NG_050651.1:g.135837G>C
NG_050651.2:g.135837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1779G>C	ENSP00000493766.1:n.*1779G>C
ENST00000643051.1:c.1746G>C	ENSP00000495513.1:p.Leu582Phe
ENST00000643556.1:c.1887G>C	ENSP00000494938.1:n.1887G>C
ENST00000643816.1:n.2029G>C
ENST00000643842.1:c.*1792G>C	ENSP00000493861.1:n.*1792G>C
ENST00000644471.1:n.1837G>C
ENST00000645237.2:c.1746G>C MANE Select	ENSP00000494609.1:p.Leu582Phe
ENST00000645532.1:c.1785G>C	ENSP00000494431.1:p.Leu595Phe
ENST00000646439.1:c.1746G>C	ENSP00000494751.1:p.Leu582Phe
ENST00000376887.8:c.1746G>C	ENSP00000366084.4:p.Leu582Phe
ENST00000536256.3:c.1521G>C	ENSP00000442024.1:p.Leu507Phe
ENST00000629385.1:c.1746G>C	ENSP00000487081.1:p.Leu582Phe
NM_001105515.2:c.1746G>C	NP_001098985.1:p.Leu582Phe
NM_001301829.1:c.1746G>C	NP_001288758.1:p.Leu582Phe
NM_001301830.1:c.1521G>C	NP_001288759.1:p.Leu507Phe
NM_005845.4:c.1746G>C	NP_005836.2:p.Leu582Phe
XM_005254025.2:c.1617G>C	XP_005254082.1:p.Leu539Phe
XM_006719914.1:c.1656G>C	XP_006719977.1:p.Leu552Phe
XM_011521047.1:c.1197G>C	XP_011519349.1:p.Leu399Phe
XM_017020319.1:c.1617G>C	XP_016875808.1:p.Leu539Phe
XM_017020320.2:c.1746G>C	XP_016875809.1:p.Leu582Phe
XM_017020321.1:c.231G>C	XP_016875810.1:p.Leu77Phe
XM_017020322.1:c.1617G>C	XP_016875811.1:p.Leu539Phe
NM_001105515.3:c.1746G>C	NP_001098985.1:p.Leu582Phe
NM_001301829.2:c.1746G>C	NP_001288758.1:p.Leu582Phe
NM_001301830.2:c.1521G>C	NP_001288759.1:p.Leu507Phe
NM_005845.5:c.1746G>C MANE Select	NP_005836.2:p.Leu582Phe