Canonical Allele Identifier: CA13820115

Gene: ABCC4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95222702T>C , CM000675.2:g.95222702T>C	GRCh38
NC_000013.10:g.95874956T>C , CM000675.1:g.95874956T>C	GRCh37
NC_000013.9:g.94672957T>C	NCBI36
NG_050651.1:g.83745A>G
NG_050651.2:g.83745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*564+11908A>G	ENSP00000493766.1:n.*564+11908A>G
ENST00000643051.1:c.531+11908A>G	ENSP00000495513.1:n.531+11908A>G
ENST00000643556.1:c.672+11908A>G	ENSP00000494938.1:n.672+11908A>G
ENST00000643816.1:n.814+11908A>G
ENST00000643842.1:c.*577+11908A>G	ENSP00000493861.1:n.*577+11908A>G
ENST00000644471.1:n.627+11908A>G
ENST00000645237.2:c.531+11908A>G MANE Select	ENSP00000494609.1:n.531+11908A>G
ENST00000645532.1:c.570+11908A>G	ENSP00000494431.1:n.570+11908A>G
ENST00000646439.1:c.531+11908A>G	ENSP00000494751.1:n.531+11908A>G
ENST00000376887.8:c.531+11908A>G	ENSP00000366084.4:n.531+11908A>G
ENST00000536256.3:c.307-11921A>G	ENSP00000442024.1:n.307-11921A>G
ENST00000629385.1:c.531+11908A>G	ENSP00000487081.1:n.531+11908A>G
NM_001105515.2:c.531+11908A>G	NP_001098985.1:n.531+11908A>G
NM_001301829.1:c.531+11908A>G	NP_001288758.1:n.531+11908A>G
NM_001301830.1:c.307-11921A>G	NP_001288759.1:n.307-11921A>G
NM_005845.4:c.531+11908A>G	NP_005836.2:n.531+11908A>G
XM_005254025.2:c.402+11908A>G	XP_005254082.1:n.402+11908A>G
XM_006719914.1:c.531+11908A>G	XP_006719977.1:n.531+11908A>G
XM_017020319.1:c.402+11908A>G	XP_016875808.1:n.402+11908A>G
XM_017020320.2:c.531+11908A>G	XP_016875809.1:n.531+11908A>G
XM_017020322.1:c.402+11908A>G	XP_016875811.1:n.402+11908A>G
NM_001105515.3:c.531+11908A>G	NP_001098985.1:n.531+11908A>G
NM_001301829.2:c.531+11908A>G	NP_001288758.1:n.531+11908A>G
NM_001301830.2:c.307-11921A>G	NP_001288759.1:n.307-11921A>G
NM_005845.5:c.531+11908A>G MANE Select	NP_005836.2:n.531+11908A>G