Canonical Allele Identifier: CA4326988
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 360793
dbSNP Id: rs545534537
gnomAD v2: 7-87046775-A-G
gnomAD v3: 7-87417459-A-G
gnomAD v4: 7-87417459-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417459A>G , CM000669.2:g.87417459A>G GRCh38
NC_000007.13:g.87046775A>G , CM000669.1:g.87046775A>G GRCh37
NC_000007.12:g.86884711A>G NCBI36
NG_007118.1:g.67974T>C
NG_007118.2:g.67974T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2535T>C ENSP00000352135.3:p.Gly845=
ENST00000649586.2:c.2535T>C MANE Select ENSP00000496956.2:p.Gly845=
ENST00000265723.8:c.2535T>C ENSP00000265723.4:p.Gly845=
ENST00000358400.7:c.2535T>C ENSP00000351172.3:p.Gly845=
ENST00000359206.7:c.2535T>C ENSP00000352135.3:p.Gly845=
ENST00000453593.5:c.2535T>C ENSP00000392983.1:p.Gly845=
NM_000443.3:c.2535T>C NP_000434.1:p.Gly845=
NM_018849.2:c.2535T>C NP_061337.1:p.Gly845=
NM_018850.2:c.2535T>C NP_061338.1:p.Gly845=
XM_011516308.1:c.2535T>C XP_011514610.1:p.Gly845=
XM_011516309.1:c.2535T>C XP_011514611.1:p.Gly845=
XM_011516310.1:c.2430T>C XP_011514612.1:p.Gly810=
XM_011516311.1:c.2535T>C XP_011514613.1:p.Gly845=
XM_011516312.1:c.2535T>C XP_011514614.1:p.Gly845=
XM_011516313.1:c.2535T>C XP_011514615.1:p.Gly845=
XM_011516314.1:c.2556T>C XP_011514616.1:p.Gly852=
XM_011516315.1:c.1875T>C XP_011514617.1:p.Gly625=
XR_927478.1:n.2631T>C
XM_011516308.3:c.2805T>C XP_011514610.3:p.Gly935=
XM_011516309.3:c.2805T>C XP_011514611.3:p.Gly935=
XM_011516310.3:c.2700T>C XP_011514612.3:p.Gly900=
XM_011516311.3:c.2805T>C XP_011514613.3:p.Gly935=
XM_011516312.3:c.2805T>C XP_011514614.3:p.Gly935=
XM_011516313.3:c.2805T>C XP_011514615.2:p.Gly935=
XM_011516315.3:c.1875T>C XP_011514617.2:p.Gly625=
XM_017012323.2:c.2535T>C XP_016867812.1:p.Gly845=
XR_001744809.2:n.3306T>C
NM_000443.4:c.2535T>C MANE Select NP_000434.1:p.Gly845=
NM_018849.3:c.2535T>C NP_061337.1:p.Gly845=
NM_018850.3:c.2535T>C NP_061338.1:p.Gly845=