Canonical Allele Identifier: CA388397283

Gene: ABCC4

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95043680A>G , CM000675.2:g.95043680A>G	GRCh38
NC_000013.10:g.95695934A>G , CM000675.1:g.95695934A>G	GRCh37
NC_000013.9:g.94493935A>G	NCBI36
NG_050651.1:g.262767T>C
NG_050651.2:g.262767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471041.2:n.605+2T>C
ENST00000643051.1:c.*1646+2T>C	ENSP00000495513.1:n.*1646+2T>C
ENST00000643842.1:c.*3781+2T>C	ENSP00000493861.1:n.*3781+2T>C
ENST00000645237.2:c.3735+2T>C MANE Select	ENSP00000494609.1:n.3735+2T>C
ENST00000646439.1:c.3594+2T>C	ENSP00000494751.1:n.3594+2T>C
ENST00000376887.8:c.3735+2T>C	ENSP00000366084.4:n.3735+2T>C
ENST00000471041.1:n.621T>C
ENST00000484109.1:n.172T>C
NM_001301829.1:c.3594+2T>C	NP_001288758.1:n.3594+2T>C
NM_005845.4:c.3735+2T>C	NP_005836.2:n.3735+2T>C
XM_005254025.2:c.3606+2T>C	XP_005254082.1:n.3606+2T>C
XM_006719914.1:c.3645+2T>C	XP_006719977.1:n.3645+2T>C
XM_011521047.1:c.3186+2T>C	XP_011519349.1:n.3186+2T>C
XM_017020319.1:c.3606+2T>C	XP_016875808.1:n.3606+2T>C
XM_017020321.1:c.2220+2T>C	XP_016875810.1:n.2220+2T>C
NM_001301829.2:c.3594+2T>C	NP_001288758.1:n.3594+2T>C
NM_005845.5:c.3735+2T>C MANE Select	NP_005836.2:n.3735+2T>C