Canonical Allele Identifier: CA368056787
Gene: ABCB4 HGNC NCBI

Linked Data

dbSNP Id: rs1807832963
gnomAD v3: 7-87402205-A-G
gnomAD v4: 7-87402205-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87402205A>G , CM000669.2:g.87402205A>G GRCh38
NC_000007.13:g.87031521A>G , CM000669.1:g.87031521A>G GRCh37
NC_000007.12:g.86869457A>G NCBI36
NG_007118.1:g.83228T>C
NG_007118.2:g.83228T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3731T>C ENSP00000352135.3:p.Val1244Ala
ENST00000649586.2:c.3731T>C MANE Select ENSP00000496956.2:p.Val1244Ala
ENST00000265723.8:c.3752T>C ENSP00000265723.4:p.Val1251Ala
ENST00000358400.7:c.3590T>C ENSP00000351172.3:p.Val1197Ala
ENST00000359206.7:c.3731T>C ENSP00000352135.3:p.Val1244Ala
ENST00000440025.1:c.165T>C
ENST00000453593.5:c.3590T>C ENSP00000392983.1:p.Val1197Ala
ENST00000467983.1:n.343T>C
NM_000443.3:c.3731T>C NP_000434.1:p.Val1244Ala
NM_018849.2:c.3752T>C NP_061337.1:p.Val1251Ala
NM_018850.2:c.3590T>C NP_061338.1:p.Val1197Ala
XM_011516308.1:c.3752T>C XP_011514610.1:p.Val1251Ala
XM_011516309.1:c.3731T>C XP_011514611.1:p.Val1244Ala
XM_011516310.1:c.3647T>C XP_011514612.1:p.Val1216Ala
XM_011516311.1:c.3623T>C XP_011514613.1:p.Val1208Ala
XM_011516312.1:c.3611T>C XP_011514614.1:p.Val1204Ala
XM_011516313.1:c.3590T>C XP_011514615.1:p.Val1197Ala
XM_011516314.1:c.3773T>C XP_011514616.1:p.Val1258Ala
XM_011516315.1:c.3092T>C XP_011514617.1:p.Val1031Ala
XM_011516308.3:c.4022T>C XP_011514610.3:p.Val1341Ala
XM_011516309.3:c.4001T>C XP_011514611.3:p.Val1334Ala
XM_011516310.3:c.3917T>C XP_011514612.3:p.Val1306Ala
XM_011516311.3:c.3893T>C XP_011514613.3:p.Val1298Ala
XM_011516312.3:c.3881T>C XP_011514614.3:p.Val1294Ala
XM_011516313.3:c.3860T>C XP_011514615.2:p.Val1287Ala
XM_011516315.3:c.3092T>C XP_011514617.2:p.Val1031Ala
XM_017012323.2:c.3752T>C XP_016867812.1:p.Val1251Ala
XR_001744809.2:n.4260T>C
NM_000443.4:c.3731T>C MANE Select NP_000434.1:p.Val1244Ala
NM_018849.3:c.3752T>C NP_061337.1:p.Val1251Ala
NM_018850.3:c.3590T>C NP_061338.1:p.Val1197Ala