Canonical Allele Identifier: CA456348409
Gene: ABCB4 HGNC NCBI

Linked Data

gnomAD v4: 7-87431419-T-C
MyVariant Identifiers: chr7:g.87060735T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87431419T>C , CM000669.2:g.87431419T>C GRCh38
NC_000007.13:g.87060735T>C , CM000669.1:g.87060735T>C GRCh37
NC_000007.12:g.86898671T>C NCBI36
NG_007118.1:g.54014A>G
NG_007118.2:g.54014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.1878A>G ENSP00000352135.3:p.Lys626=
ENST00000643670.1:c.1894A>G ENSP00000496629.1:n.1894A>G
ENST00000644106.1:c.*1415A>G ENSP00000493477.1:n.*1415A>G
ENST00000649586.2:c.1878A>G MANE Select ENSP00000496956.2:p.Lys626=
ENST00000265723.8:c.1878A>G ENSP00000265723.4:p.Lys626=
ENST00000358400.7:c.1878A>G ENSP00000351172.3:p.Lys626=
ENST00000359206.7:c.1878A>G ENSP00000352135.3:p.Lys626=
ENST00000453593.5:c.1878A>G ENSP00000392983.1:p.Lys626=
ENST00000469770.1:n.82A>G
NM_000443.3:c.1878A>G NP_000434.1:p.Lys626=
NM_018849.2:c.1878A>G NP_061337.1:p.Lys626=
NM_018850.2:c.1878A>G NP_061338.1:p.Lys626=
XM_011516308.1:c.1878A>G XP_011514610.1:p.Lys626=
XM_011516309.1:c.1878A>G XP_011514611.1:p.Lys626=
XM_011516310.1:c.1878A>G XP_011514612.1:p.Lys626=
XM_011516311.1:c.1878A>G XP_011514613.1:p.Lys626=
XM_011516312.1:c.1878A>G XP_011514614.1:p.Lys626=
XM_011516313.1:c.1878A>G XP_011514615.1:p.Lys626=
XM_011516314.1:c.1899A>G XP_011514616.1:p.Lys633=
XM_011516315.1:c.1218A>G XP_011514617.1:p.Lys406=
XR_927478.1:n.1974A>G
XM_011516308.3:c.2148A>G XP_011514610.3:p.Lys716=
XM_011516309.3:c.2148A>G XP_011514611.3:p.Lys716=
XM_011516310.3:c.2148A>G XP_011514612.3:p.Lys716=
XM_011516311.3:c.2148A>G XP_011514613.3:p.Lys716=
XM_011516312.3:c.2148A>G XP_011514614.3:p.Lys716=
XM_011516313.3:c.2148A>G XP_011514615.2:p.Lys716=
XM_011516315.3:c.1218A>G XP_011514617.2:p.Lys406=
XM_017012323.2:c.1878A>G XP_016867812.1:p.Lys626=
XR_001744809.2:n.2649A>G
XR_001744810.2:n.2644A>G
NM_000443.4:c.1878A>G MANE Select NP_000434.1:p.Lys626=
NM_018849.3:c.1878A>G NP_061337.1:p.Lys626=
NM_018850.3:c.1878A>G NP_061338.1:p.Lys626=