Canonical Allele Identifier: CA368056774
Gene: ABCB4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87402200G>A , CM000669.2:g.87402200G>A GRCh38
NC_000007.13:g.87031516G>A , CM000669.1:g.87031516G>A GRCh37
NC_000007.12:g.86869452G>A NCBI36
NG_007118.1:g.83233C>T
NG_007118.2:g.83233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3736C>T ENSP00000352135.3:p.Gln1246Ter
ENST00000649586.2:c.3736C>T MANE Select ENSP00000496956.2:p.Gln1246Ter
ENST00000265723.8:c.3757C>T ENSP00000265723.4:p.Gln1253Ter
ENST00000358400.7:c.3595C>T ENSP00000351172.3:p.Gln1199Ter
ENST00000359206.7:c.3736C>T ENSP00000352135.3:p.Gln1246Ter
ENST00000440025.1:c.170C>T
ENST00000453593.5:c.3595C>T ENSP00000392983.1:p.Gln1199Ter
ENST00000467983.1:n.348C>T
NM_000443.3:c.3736C>T NP_000434.1:p.Gln1246Ter
NM_018849.2:c.3757C>T NP_061337.1:p.Gln1253Ter
NM_018850.2:c.3595C>T NP_061338.1:p.Gln1199Ter
XM_011516308.1:c.3757C>T XP_011514610.1:p.Gln1253Ter
XM_011516309.1:c.3736C>T XP_011514611.1:p.Gln1246Ter
XM_011516310.1:c.3652C>T XP_011514612.1:p.Gln1218Ter
XM_011516311.1:c.3628C>T XP_011514613.1:p.Gln1210Ter
XM_011516312.1:c.3616C>T XP_011514614.1:p.Gln1206Ter
XM_011516313.1:c.3595C>T XP_011514615.1:p.Gln1199Ter
XM_011516314.1:c.3778C>T XP_011514616.1:p.Gln1260Ter
XM_011516315.1:c.3097C>T XP_011514617.1:p.Gln1033Ter
XM_011516308.3:c.4027C>T XP_011514610.3:p.Gln1343Ter
XM_011516309.3:c.4006C>T XP_011514611.3:p.Gln1336Ter
XM_011516310.3:c.3922C>T XP_011514612.3:p.Gln1308Ter
XM_011516311.3:c.3898C>T XP_011514613.3:p.Gln1300Ter
XM_011516312.3:c.3886C>T XP_011514614.3:p.Gln1296Ter
XM_011516313.3:c.3865C>T XP_011514615.2:p.Gln1289Ter
XM_011516315.3:c.3097C>T XP_011514617.2:p.Gln1033Ter
XM_017012323.2:c.3757C>T XP_016867812.1:p.Gln1253Ter
XR_001744809.2:n.4265C>T
NM_000443.4:c.3736C>T MANE Select NP_000434.1:p.Gln1246Ter
NM_018849.3:c.3757C>T NP_061337.1:p.Gln1253Ter
NM_018850.3:c.3595C>T NP_061338.1:p.Gln1199Ter