Canonical Allele Identifier: CA2581147445

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95028031G>T , CM000675.2:g.95028031G>T	GRCh38
NC_000013.10:g.95680285G>T , CM000675.1:g.95680285G>T	GRCh37
NC_000013.9:g.94478286G>T	NCBI36
NG_050651.1:g.278416C>A
NG_050651.2:g.278416C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005845.5:c.3871-6349C>A MANE Select	NP_005836.2:n.3871-6349C>A
ENST00000645237.2:c.3871-6349C>A MANE Select	ENSP00000494609.1:n.3871-6349C>A
NM_001301829.1:c.3730-6349C>A	NP_001288758.1:n.3730-6349C>A
NM_001301829.2:c.3730-6349C>A	NP_001288758.1:n.3730-6349C>A
NM_005845.4:c.3871-6349C>A	NP_005836.2:n.3871-6349C>A
ENST00000376887.8:c.3871-6349C>A	ENSP00000366084.4:n.3871-6349C>A
ENST00000471041.2:n.741-6349C>A
ENST00000643051.1:c.*1782-6349C>A	ENSP00000495513.1:n.*1782-6349C>A
ENST00000643842.1:c.*3917-6349C>A	ENSP00000493861.1:n.*3917-6349C>A
ENST00000646439.1:c.3730-6349C>A	ENSP00000494751.1:n.3730-6349C>A
XM_005254025.2:c.3742-6349C>A	XP_005254082.1:n.3742-6349C>A
XM_006719914.1:c.3781-6349C>A	XP_006719977.1:n.3781-6349C>A
XM_011521047.1:c.3322-6349C>A	XP_011519349.1:n.3322-6349C>A
XM_017020319.1:c.3742-6349C>A	XP_016875808.1:n.3742-6349C>A
XM_017020321.1:c.2356-6349C>A	XP_016875810.1:n.2356-6349C>A