Canonical Allele Identifier: CA2728780914

Gene: ABCC4

Linked Data

• dbSNP Id: rs2138718567

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95222693C>T , CM000675.2:g.95222693C>T	GRCh38
NC_000013.10:g.95874947C>T , CM000675.1:g.95874947C>T	GRCh37
NC_000013.9:g.94672948C>T	NCBI36
NG_050651.1:g.83754G>A
NG_050651.2:g.83754G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*565-11912G>A	ENSP00000493766.1:n.*565-11912G>A
ENST00000643051.1:c.532-11912G>A	ENSP00000495513.1:n.532-11912G>A
ENST00000643556.1:c.673-11912G>A	ENSP00000494938.1:n.673-11912G>A
ENST00000643816.1:n.815-11912G>A
ENST00000643842.1:c.*578-11912G>A	ENSP00000493861.1:n.*578-11912G>A
ENST00000644471.1:n.628-11912G>A
ENST00000645237.2:c.532-11912G>A MANE Select	ENSP00000494609.1:n.532-11912G>A
ENST00000645532.1:c.571-11912G>A	ENSP00000494431.1:n.571-11912G>A
ENST00000646439.1:c.532-11912G>A	ENSP00000494751.1:n.532-11912G>A
ENST00000376887.8:c.532-11912G>A	ENSP00000366084.4:n.532-11912G>A
ENST00000536256.3:c.307-11912G>A	ENSP00000442024.1:n.307-11912G>A
ENST00000629385.1:c.532-11912G>A	ENSP00000487081.1:n.532-11912G>A
NM_001105515.2:c.532-11912G>A	NP_001098985.1:n.532-11912G>A
NM_001301829.1:c.532-11912G>A	NP_001288758.1:n.532-11912G>A
NM_001301830.1:c.307-11912G>A	NP_001288759.1:n.307-11912G>A
NM_005845.4:c.532-11912G>A	NP_005836.2:n.532-11912G>A
XM_005254025.2:c.403-11912G>A	XP_005254082.1:n.403-11912G>A
XM_006719914.1:c.532-11912G>A	XP_006719977.1:n.532-11912G>A
XM_017020319.1:c.403-11912G>A	XP_016875808.1:n.403-11912G>A
XM_017020320.2:c.532-11912G>A	XP_016875809.1:n.532-11912G>A
XM_017020322.1:c.403-11912G>A	XP_016875811.1:n.403-11912G>A
NM_001105515.3:c.532-11912G>A	NP_001098985.1:n.532-11912G>A
NM_001301829.2:c.532-11912G>A	NP_001288758.1:n.532-11912G>A
NM_001301830.2:c.307-11912G>A	NP_001288759.1:n.307-11912G>A
NM_005845.5:c.532-11912G>A MANE Select	NP_005836.2:n.532-11912G>A