Canonical Allele Identifier: CA7019254

Gene: ABCC4

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95163161C>T , CM000675.2:g.95163161C>T	GRCh38
NC_000013.10:g.95815415C>T , CM000675.1:g.95815415C>T	GRCh37
NC_000013.9:g.94613416C>T	NCBI36
NG_050651.1:g.143286G>A
NG_050651.2:g.143286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.2269G>A	ENSP00000495513.1:p.Glu757Lys
ENST00000643556.1:c.2410G>A	ENSP00000494938.1:n.2410G>A
ENST00000643816.1:n.2552G>A
ENST00000643842.1:c.*2315G>A	ENSP00000493861.1:n.*2315G>A
ENST00000645237.2:c.2269G>A MANE Select	ENSP00000494609.1:p.Glu757Lys
ENST00000646439.1:c.2128G>A	ENSP00000494751.1:p.Glu710Lys
ENST00000376887.8:c.2269G>A	ENSP00000366084.4:p.Glu757Lys
ENST00000536256.3:c.2044G>A	ENSP00000442024.1:p.Glu682Lys
ENST00000629385.1:c.2269G>A	ENSP00000487081.1:p.Glu757Lys
NM_001105515.2:c.2269G>A	NP_001098985.1:p.Glu757Lys
NM_001301829.1:c.2128G>A	NP_001288758.1:p.Glu710Lys
NM_001301830.1:c.2044G>A	NP_001288759.1:p.Glu682Lys
NM_005845.4:c.2269G>A	NP_005836.2:p.Glu757Lys
XM_005254025.2:c.2140G>A	XP_005254082.1:p.Glu714Lys
XM_006719914.1:c.2179G>A	XP_006719977.1:p.Glu727Lys
XM_011521047.1:c.1720G>A	XP_011519349.1:p.Glu574Lys
XM_017020319.1:c.2140G>A	XP_016875808.1:p.Glu714Lys
XM_017020320.2:c.2269G>A	XP_016875809.1:p.Glu757Lys
XM_017020321.1:c.754G>A	XP_016875810.1:p.Glu252Lys
XM_017020322.1:c.2140G>A	XP_016875811.1:p.Glu714Lys
NM_001105515.3:c.2269G>A	NP_001098985.1:p.Glu757Lys
NM_001301829.2:c.2128G>A	NP_001288758.1:p.Glu710Lys
NM_001301830.2:c.2044G>A	NP_001288759.1:p.Glu682Lys
NM_005845.5:c.2269G>A MANE Select	NP_005836.2:p.Glu757Lys