Canonical Allele Identifier: CA575852726
Gene: ABCB4 HGNC NCBI

Linked Data

dbSNP Id: rs374010463
gnomAD v2: 7-87053202-T-A
gnomAD v4: 7-87423886-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87423886T>A , CM000669.2:g.87423886T>A GRCh38
NC_000007.13:g.87053202T>A , CM000669.1:g.87053202T>A GRCh37
NC_000007.12:g.86891138T>A NCBI36
NG_007118.1:g.61547A>T
NG_007118.2:g.61547A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.2211+20A>T ENSP00000352135.3:n.2211+20A>T
ENST00000643670.1:c.2247A>T ENSP00000496629.1:n.2247A>T
ENST00000649586.2:c.2211+20A>T MANE Select ENSP00000496956.2:n.2211+20A>T
ENST00000265723.8:c.2211+20A>T ENSP00000265723.4:n.2211+20A>T
ENST00000358400.7:c.2211+20A>T ENSP00000351172.3:n.2211+20A>T
ENST00000359206.7:c.2211+20A>T ENSP00000352135.3:n.2211+20A>T
ENST00000453593.5:c.2211+20A>T ENSP00000392983.1:n.2211+20A>T
ENST00000469770.1:n.435A>T
NM_000443.3:c.2211+20A>T NP_000434.1:n.2211+20A>T
NM_018849.2:c.2211+20A>T NP_061337.1:n.2211+20A>T
NM_018850.2:c.2211+20A>T NP_061338.1:n.2211+20A>T
XM_011516308.1:c.2211+20A>T XP_011514610.1:n.2211+20A>T
XM_011516309.1:c.2211+20A>T XP_011514611.1:n.2211+20A>T
XM_011516310.1:c.2211+20A>T XP_011514612.1:n.2211+20A>T
XM_011516311.1:c.2211+20A>T XP_011514613.1:n.2211+20A>T
XM_011516312.1:c.2211+20A>T XP_011514614.1:n.2211+20A>T
XM_011516313.1:c.2211+20A>T XP_011514615.1:n.2211+20A>T
XM_011516314.1:c.2232+20A>T XP_011514616.1:n.2232+20A>T
XM_011516315.1:c.1551+20A>T XP_011514617.1:n.1551+20A>T
XR_927478.1:n.2307+20A>T
XM_011516308.3:c.2481+20A>T XP_011514610.3:n.2481+20A>T
XM_011516309.3:c.2481+20A>T XP_011514611.3:n.2481+20A>T
XM_011516310.3:c.2481+20A>T XP_011514612.3:n.2481+20A>T
XM_011516311.3:c.2481+20A>T XP_011514613.3:n.2481+20A>T
XM_011516312.3:c.2481+20A>T XP_011514614.3:n.2481+20A>T
XM_011516313.3:c.2481+20A>T XP_011514615.2:n.2481+20A>T
XM_011516315.3:c.1551+20A>T XP_011514617.2:n.1551+20A>T
XM_017012323.2:c.2211+20A>T XP_016867812.1:n.2211+20A>T
XR_001744809.2:n.2982+20A>T
XR_001744810.2:n.2977+20A>T
NM_000443.4:c.2211+20A>T MANE Select NP_000434.1:n.2211+20A>T
NM_018849.3:c.2211+20A>T NP_061337.1:n.2211+20A>T
NM_018850.3:c.2211+20A>T NP_061338.1:n.2211+20A>T