Canonical Allele Identifier: CA1723573243
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87412004C= , CM000669.2:g.87412004C= GRCh38
NC_000007.13:g.87041320C= , CM000669.1:g.87041320C= GRCh37
NC_000007.12:g.86879256C= NCBI36
NG_007118.1:g.73429G=
NG_007118.2:g.73429G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2813G= ENSP00000352135.3:p.Gly938=
ENST00000649586.2:c.2813G= MANE Select ENSP00000496956.2:p.Gly938=
ENST00000265723.8:c.2813G= ENSP00000265723.4:p.Gly938=
ENST00000358400.7:c.2783+1613G= ENSP00000351172.3:n.2783+1613G=
ENST00000359206.7:c.2813G= ENSP00000352135.3:p.Gly938=
ENST00000453593.5:c.2783+1613G= ENSP00000392983.1:n.2783+1613G=
NM_000443.3:c.2813G= NP_000434.1:p.Gly938=
NM_018849.2:c.2813G= NP_061337.1:p.Gly938=
NM_018850.2:c.2783+1613G= NP_061338.1:n.2783+1613G=
XM_011516308.1:c.2813G= XP_011514610.1:p.Gly938=
XM_011516309.1:c.2813G= XP_011514611.1:p.Gly938=
XM_011516310.1:c.2708G= XP_011514612.1:p.Gly903=
XM_011516311.1:c.2784-100G= XP_011514613.1:n.2784-100G=
XM_011516312.1:c.2783+1613G= XP_011514614.1:n.2783+1613G=
XM_011516313.1:c.2783+1613G= XP_011514615.1:n.2783+1613G=
XM_011516314.1:c.2834G= XP_011514616.1:p.Gly945=
XM_011516315.1:c.2153G= XP_011514617.1:p.Gly718=
XR_927478.1:n.2779-2612G=
XM_011516308.3:c.3083G= XP_011514610.3:p.Gly1028=
XM_011516309.3:c.3083G= XP_011514611.3:p.Gly1028=
XM_011516310.3:c.2978G= XP_011514612.3:p.Gly993=
XM_011516311.3:c.3054-100G= XP_011514613.3:n.3054-100G=
XM_011516312.3:c.3053+1613G= XP_011514614.3:n.3053+1613G=
XM_011516313.3:c.3053+1613G= XP_011514615.2:n.3053+1613G=
XM_011516315.3:c.2153G= XP_011514617.2:p.Gly718=
XM_017012323.2:c.2813G= XP_016867812.1:p.Gly938=
XR_001744809.2:n.3454-2612G=
NM_000443.4:c.2813G= MANE Select NP_000434.1:p.Gly938=
NM_018849.3:c.2813G= NP_061337.1:p.Gly938=
NM_018850.3:c.2783+1613G= NP_061338.1:n.2783+1613G=