Canonical Allele Identifier: CA368056939
Gene: ABCB4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87402245G>T , CM000669.2:g.87402245G>T GRCh38
NC_000007.13:g.87031561G>T , CM000669.1:g.87031561G>T GRCh37
NC_000007.12:g.86869497G>T NCBI36
NG_007118.1:g.83188C>A
NG_007118.2:g.83188C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3691C>A ENSP00000352135.3:p.His1231Asn
ENST00000649586.2:c.3691C>A MANE Select ENSP00000496956.2:p.His1231Asn
ENST00000265723.8:c.3712C>A ENSP00000265723.4:p.His1238Asn
ENST00000358400.7:c.3550C>A ENSP00000351172.3:p.His1184Asn
ENST00000359206.7:c.3691C>A ENSP00000352135.3:p.His1231Asn
ENST00000440025.1:c.125C>A
ENST00000453593.5:c.3550C>A ENSP00000392983.1:p.His1184Asn
ENST00000467983.1:n.303C>A
NM_000443.3:c.3691C>A NP_000434.1:p.His1231Asn
NM_018849.2:c.3712C>A NP_061337.1:p.His1238Asn
NM_018850.2:c.3550C>A NP_061338.1:p.His1184Asn
XM_011516308.1:c.3712C>A XP_011514610.1:p.His1238Asn
XM_011516309.1:c.3691C>A XP_011514611.1:p.His1231Asn
XM_011516310.1:c.3607C>A XP_011514612.1:p.His1203Asn
XM_011516311.1:c.3583C>A XP_011514613.1:p.His1195Asn
XM_011516312.1:c.3571C>A XP_011514614.1:p.His1191Asn
XM_011516313.1:c.3550C>A XP_011514615.1:p.His1184Asn
XM_011516314.1:c.3733C>A XP_011514616.1:p.His1245Asn
XM_011516315.1:c.3052C>A XP_011514617.1:p.His1018Asn
XM_011516308.3:c.3982C>A XP_011514610.3:p.His1328Asn
XM_011516309.3:c.3961C>A XP_011514611.3:p.His1321Asn
XM_011516310.3:c.3877C>A XP_011514612.3:p.His1293Asn
XM_011516311.3:c.3853C>A XP_011514613.3:p.His1285Asn
XM_011516312.3:c.3841C>A XP_011514614.3:p.His1281Asn
XM_011516313.3:c.3820C>A XP_011514615.2:p.His1274Asn
XM_011516315.3:c.3052C>A XP_011514617.2:p.His1018Asn
XM_017012323.2:c.3712C>A XP_016867812.1:p.His1238Asn
XR_001744809.2:n.4220C>A
NM_000443.4:c.3691C>A MANE Select NP_000434.1:p.His1231Asn
NM_018849.3:c.3712C>A NP_061337.1:p.His1238Asn
NM_018850.3:c.3550C>A NP_061338.1:p.His1184Asn