Canonical Allele Identifier: CA2112112677
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95171000T= , CM000675.2:g.95171000T= GRCh38
NC_000013.10:g.95823254T= , CM000675.1:g.95823254T= GRCh37
NC_000013.9:g.94621255T= NCBI36
NG_050651.1:g.135447A=
NG_050651.2:g.135447A=

Transcript Alleles

HGVS Amino-acid change
ENST00000642524.1:c.*1761-372A= ENSP00000493766.1:n.*1761-372A=
ENST00000643051.1:c.1728-372A= ENSP00000495513.1:n.1728-372A=
ENST00000643556.1:c.1869-372A= ENSP00000494938.1:n.1869-372A=
ENST00000643816.1:n.2011-372A=
ENST00000643842.1:c.*1774-372A= ENSP00000493861.1:n.*1774-372A=
ENST00000644471.1:n.1819-372A=
ENST00000645237.2:c.1728-372A= MANE Select ENSP00000494609.1:n.1728-372A=
ENST00000645532.1:c.1767-372A= ENSP00000494431.1:n.1767-372A=
ENST00000646439.1:c.1728-372A= ENSP00000494751.1:n.1728-372A=
ENST00000376887.8:c.1728-372A= ENSP00000366084.4:n.1728-372A=
ENST00000536256.3:c.1503-372A= ENSP00000442024.1:n.1503-372A=
ENST00000629385.1:c.1728-372A= ENSP00000487081.1:n.1728-372A=
NM_001105515.2:c.1728-372A= NP_001098985.1:n.1728-372A=
NM_001301829.1:c.1728-372A= NP_001288758.1:n.1728-372A=
NM_001301830.1:c.1503-372A= NP_001288759.1:n.1503-372A=
NM_005845.4:c.1728-372A= NP_005836.2:n.1728-372A=
XM_005254025.2:c.1599-372A= XP_005254082.1:n.1599-372A=
XM_006719914.1:c.1638-372A= XP_006719977.1:n.1638-372A=
XM_011521047.1:c.1179-372A= XP_011519349.1:n.1179-372A=
XM_017020319.1:c.1599-372A= XP_016875808.1:n.1599-372A=
XM_017020320.2:c.1728-372A= XP_016875809.1:n.1728-372A=
XM_017020321.1:c.213-372A= XP_016875810.1:n.213-372A=
XM_017020322.1:c.1599-372A= XP_016875811.1:n.1599-372A=
NM_001105515.3:c.1728-372A= NP_001098985.1:n.1728-372A=
NM_001301829.2:c.1728-372A= NP_001288758.1:n.1728-372A=
NM_001301830.2:c.1503-372A= NP_001288759.1:n.1503-372A=
NM_005845.5:c.1728-372A= MANE Select NP_005836.2:n.1728-372A=