Canonical Allele Identifier: CA456358315
Gene: ABCB4 HGNC NCBI

Linked Data

gnomAD v4: 7-87417351-A-G
MyVariant Identifiers: chr7:g.87046667A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417351A>G , CM000669.2:g.87417351A>G GRCh38
NC_000007.13:g.87046667A>G , CM000669.1:g.87046667A>G GRCh37
NC_000007.12:g.86884603A>G NCBI36
NG_007118.1:g.68082T>C
NG_007118.2:g.68082T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2643T>C ENSP00000352135.3:p.Asn881=
ENST00000649586.2:c.2643T>C MANE Select ENSP00000496956.2:p.Asn881=
ENST00000265723.8:c.2643T>C ENSP00000265723.4:p.Asn881=
ENST00000358400.7:c.2643T>C ENSP00000351172.3:p.Asn881=
ENST00000359206.7:c.2643T>C ENSP00000352135.3:p.Asn881=
ENST00000453593.5:c.2643T>C ENSP00000392983.1:p.Asn881=
NM_000443.3:c.2643T>C NP_000434.1:p.Asn881=
NM_018849.2:c.2643T>C NP_061337.1:p.Asn881=
NM_018850.2:c.2643T>C NP_061338.1:p.Asn881=
XM_011516308.1:c.2643T>C XP_011514610.1:p.Asn881=
XM_011516309.1:c.2643T>C XP_011514611.1:p.Asn881=
XM_011516310.1:c.2538T>C XP_011514612.1:p.Asn846=
XM_011516311.1:c.2643T>C XP_011514613.1:p.Asn881=
XM_011516312.1:c.2643T>C XP_011514614.1:p.Asn881=
XM_011516313.1:c.2643T>C XP_011514615.1:p.Asn881=
XM_011516314.1:c.2664T>C XP_011514616.1:p.Asn888=
XM_011516315.1:c.1983T>C XP_011514617.1:p.Asn661=
XR_927478.1:n.2739T>C
XM_011516308.3:c.2913T>C XP_011514610.3:p.Asn971=
XM_011516309.3:c.2913T>C XP_011514611.3:p.Asn971=
XM_011516310.3:c.2808T>C XP_011514612.3:p.Asn936=
XM_011516311.3:c.2913T>C XP_011514613.3:p.Asn971=
XM_011516312.3:c.2913T>C XP_011514614.3:p.Asn971=
XM_011516313.3:c.2913T>C XP_011514615.2:p.Asn971=
XM_011516315.3:c.1983T>C XP_011514617.2:p.Asn661=
XM_017012323.2:c.2643T>C XP_016867812.1:p.Asn881=
XR_001744809.2:n.3414T>C
NM_000443.4:c.2643T>C MANE Select NP_000434.1:p.Asn881=
NM_018849.3:c.2643T>C NP_061337.1:p.Asn881=
NM_018850.3:c.2643T>C NP_061338.1:p.Asn881=