Canonical Allele Identifier: CA388396557

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95210754C>G , CM000675.2:g.95210754C>G	GRCh38
NC_000013.10:g.95863008C>G , CM000675.1:g.95863008C>G	GRCh37
NC_000013.9:g.94661009C>G	NCBI36
NG_050651.1:g.95693G>C
NG_050651.2:g.95693G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005845.5:c.559G>C MANE Select	NP_005836.2:p.Gly187Arg
ENST00000645237.2:c.559G>C MANE Select	ENSP00000494609.1:p.Gly187Arg
NM_001105515.2:c.559G>C	NP_001098985.1:p.Gly187Arg
NM_001105515.3:c.559G>C	NP_001098985.1:p.Gly187Arg
NM_001301829.1:c.559G>C	NP_001288758.1:p.Gly187Arg
NM_001301829.2:c.559G>C	NP_001288758.1:p.Gly187Arg
NM_001301830.1:c.334G>C	NP_001288759.1:p.Gly112Arg
NM_001301830.2:c.334G>C	NP_001288759.1:p.Gly112Arg
NM_005845.4:c.559G>C	NP_005836.2:p.Gly187Arg
ENST00000376887.8:c.559G>C	ENSP00000366084.4:p.Gly187Arg
ENST00000536256.3:c.334G>C	ENSP00000442024.1:p.Gly112Arg
ENST00000629385.1:c.559G>C	ENSP00000487081.1:p.Gly187Arg
ENST00000642524.1:c.*592G>C	ENSP00000493766.1:n.*592G>C
ENST00000643051.1:c.559G>C	ENSP00000495513.1:p.Gly187Arg
ENST00000643556.1:c.700G>C	ENSP00000494938.1:n.700G>C
ENST00000643816.1:n.842G>C
ENST00000643842.1:c.*605G>C	ENSP00000493861.1:n.*605G>C
ENST00000644471.1:n.655G>C
ENST00000645532.1:c.598G>C	ENSP00000494431.1:p.Gly200Arg
ENST00000646439.1:c.559G>C	ENSP00000494751.1:p.Gly187Arg
XM_005254025.2:c.430G>C	XP_005254082.1:p.Gly144Arg
XM_006719914.1:c.559G>C	XP_006719977.1:p.Gly187Arg
XM_011521047.1:c.10G>C	XP_011519349.1:p.Gly4Arg
XM_017020319.1:c.430G>C	XP_016875808.1:p.Gly144Arg
XM_017020320.2:c.559G>C	XP_016875809.1:p.Gly187Arg
XM_017020322.1:c.430G>C	XP_016875811.1:p.Gly144Arg