Canonical Allele Identifier: CA456351015
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3002299
ClinVar RCV Id: RCV003865426
dbSNP Id: rs1186250712
gnomAD v3: 7-87447109-T-C
gnomAD v4: 7-87447109-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87447109T>C , CM000669.2:g.87447109T>C GRCh38
NC_000007.13:g.87076425T>C , CM000669.1:g.87076425T>C GRCh37
NC_000007.12:g.86914361T>C NCBI36
NG_007118.1:g.38324A>G
NG_007118.2:g.38324A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.930A>G ENSP00000352135.3:p.Ala310=
ENST00000643670.1:c.946A>G ENSP00000496629.1:n.946A>G
ENST00000644106.1:c.*467A>G ENSP00000493477.1:n.*467A>G
ENST00000649586.2:c.930A>G MANE Select ENSP00000496956.2:p.Ala310=
ENST00000265723.8:c.930A>G ENSP00000265723.4:p.Ala310=
ENST00000358400.7:c.930A>G ENSP00000351172.3:p.Ala310=
ENST00000359206.7:c.930A>G ENSP00000352135.3:p.Ala310=
ENST00000453593.5:c.930A>G ENSP00000392983.1:p.Ala310=
NM_000443.3:c.930A>G NP_000434.1:p.Ala310=
NM_018849.2:c.930A>G NP_061337.1:p.Ala310=
NM_018850.2:c.930A>G NP_061338.1:p.Ala310=
XM_011516308.1:c.930A>G XP_011514610.1:p.Ala310=
XM_011516309.1:c.930A>G XP_011514611.1:p.Ala310=
XM_011516310.1:c.930A>G XP_011514612.1:p.Ala310=
XM_011516311.1:c.930A>G XP_011514613.1:p.Ala310=
XM_011516312.1:c.930A>G XP_011514614.1:p.Ala310=
XM_011516313.1:c.930A>G XP_011514615.1:p.Ala310=
XM_011516314.1:c.951A>G XP_011514616.1:p.Ala317=
XM_011516315.1:c.270A>G XP_011514617.1:p.Ala90=
XR_927478.1:n.1026A>G
XM_011516308.3:c.1200A>G XP_011514610.3:p.Ala400=
XM_011516309.3:c.1200A>G XP_011514611.3:p.Ala400=
XM_011516310.3:c.1200A>G XP_011514612.3:p.Ala400=
XM_011516311.3:c.1200A>G XP_011514613.3:p.Ala400=
XM_011516312.3:c.1200A>G XP_011514614.3:p.Ala400=
XM_011516313.3:c.1200A>G XP_011514615.2:p.Ala400=
XM_011516315.3:c.270A>G XP_011514617.2:p.Ala90=
XM_017012323.2:c.930A>G XP_016867812.1:p.Ala310=
XR_001744809.2:n.1701A>G
XR_001744810.2:n.1696A>G
NM_000443.4:c.930A>G MANE Select NP_000434.1:p.Ala310=
NM_018849.3:c.930A>G NP_061337.1:p.Ala310=
NM_018850.3:c.930A>G NP_061338.1:p.Ala310=