Canonical Allele Identifier: CA2112112665
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95170991G= , CM000675.2:g.95170991G= GRCh38
NC_000013.10:g.95823245G= , CM000675.1:g.95823245G= GRCh37
NC_000013.9:g.94621246G= NCBI36
NG_050651.1:g.135456C=
NG_050651.2:g.135456C=

Transcript Alleles

HGVS Amino-acid change
ENST00000642524.1:c.*1761-363C= ENSP00000493766.1:n.*1761-363C=
ENST00000643051.1:c.1728-363C= ENSP00000495513.1:n.1728-363C=
ENST00000643556.1:c.1869-363C= ENSP00000494938.1:n.1869-363C=
ENST00000643816.1:n.2011-363C=
ENST00000643842.1:c.*1774-363C= ENSP00000493861.1:n.*1774-363C=
ENST00000644471.1:n.1819-363C=
ENST00000645237.2:c.1728-363C= MANE Select ENSP00000494609.1:n.1728-363C=
ENST00000645532.1:c.1767-363C= ENSP00000494431.1:n.1767-363C=
ENST00000646439.1:c.1728-363C= ENSP00000494751.1:n.1728-363C=
ENST00000376887.8:c.1728-363C= ENSP00000366084.4:n.1728-363C=
ENST00000536256.3:c.1503-363C= ENSP00000442024.1:n.1503-363C=
ENST00000629385.1:c.1728-363C= ENSP00000487081.1:n.1728-363C=
NM_001105515.2:c.1728-363C= NP_001098985.1:n.1728-363C=
NM_001301829.1:c.1728-363C= NP_001288758.1:n.1728-363C=
NM_001301830.1:c.1503-363C= NP_001288759.1:n.1503-363C=
NM_005845.4:c.1728-363C= NP_005836.2:n.1728-363C=
XM_005254025.2:c.1599-363C= XP_005254082.1:n.1599-363C=
XM_006719914.1:c.1638-363C= XP_006719977.1:n.1638-363C=
XM_011521047.1:c.1179-363C= XP_011519349.1:n.1179-363C=
XM_017020319.1:c.1599-363C= XP_016875808.1:n.1599-363C=
XM_017020320.2:c.1728-363C= XP_016875809.1:n.1728-363C=
XM_017020321.1:c.213-363C= XP_016875810.1:n.213-363C=
XM_017020322.1:c.1599-363C= XP_016875811.1:n.1599-363C=
NM_001105515.3:c.1728-363C= NP_001098985.1:n.1728-363C=
NM_001301829.2:c.1728-363C= NP_001288758.1:n.1728-363C=
NM_001301830.2:c.1503-363C= NP_001288759.1:n.1503-363C=
NM_005845.5:c.1728-363C= MANE Select NP_005836.2:n.1728-363C=