Canonical Allele Identifier: CA7018942

Gene: ABCC4

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95062722C>T , CM000675.2:g.95062722C>T	GRCh38
NC_000013.10:g.95714976C>T , CM000675.1:g.95714976C>T	GRCh37
NC_000013.9:g.94512977C>T	NCBI36
NG_050651.1:g.243725G>A
NG_050651.2:g.243725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*973G>A	ENSP00000495513.1:n.*973G>A
ENST00000643842.1:c.*3394G>A	ENSP00000493861.1:n.*3394G>A
ENST00000645237.2:c.3348G>A MANE Select	ENSP00000494609.1:p.Lys1116=
ENST00000646439.1:c.3207G>A	ENSP00000494751.1:p.Lys1069=
ENST00000376887.8:c.3348G>A	ENSP00000366084.4:p.Lys1116=
NM_001301829.1:c.3207G>A	NP_001288758.1:p.Lys1069=
NM_005845.4:c.3348G>A	NP_005836.2:p.Lys1116=
XM_005254025.2:c.3219G>A	XP_005254082.1:p.Lys1073=
XM_006719914.1:c.3258G>A	XP_006719977.1:p.Lys1086=
XM_011521047.1:c.2799G>A	XP_011519349.1:p.Lys933=
XM_017020319.1:c.3219G>A	XP_016875808.1:p.Lys1073=
XM_017020321.1:c.1833G>A	XP_016875810.1:p.Lys611=
NM_001301829.2:c.3207G>A	NP_001288758.1:p.Lys1069=
NM_005845.5:c.3348G>A MANE Select	NP_005836.2:p.Lys1116=