Canonical Allele Identifier: CA368056751
Gene: ABCB4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87402190C>G , CM000669.2:g.87402190C>G GRCh38
NC_000007.13:g.87031506C>G , CM000669.1:g.87031506C>G GRCh37
NC_000007.12:g.86869442C>G NCBI36
NG_007118.1:g.83243G>C
NG_007118.2:g.83243G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.3746G>C ENSP00000352135.3:p.Arg1249Thr
ENST00000649586.2:c.3746G>C MANE Select ENSP00000496956.2:p.Arg1249Thr
ENST00000265723.8:c.3767G>C ENSP00000265723.4:p.Arg1256Thr
ENST00000358400.7:c.3605G>C ENSP00000351172.3:p.Arg1202Thr
ENST00000359206.7:c.3746G>C ENSP00000352135.3:p.Arg1249Thr
ENST00000440025.1:c.180G>C
ENST00000453593.5:c.3605G>C ENSP00000392983.1:p.Arg1202Thr
ENST00000467983.1:n.358G>C
NM_000443.3:c.3746G>C NP_000434.1:p.Arg1249Thr
NM_018849.2:c.3767G>C NP_061337.1:p.Arg1256Thr
NM_018850.2:c.3605G>C NP_061338.1:p.Arg1202Thr
XM_011516308.1:c.3767G>C XP_011514610.1:p.Arg1256Thr
XM_011516309.1:c.3746G>C XP_011514611.1:p.Arg1249Thr
XM_011516310.1:c.3662G>C XP_011514612.1:p.Arg1221Thr
XM_011516311.1:c.3638G>C XP_011514613.1:p.Arg1213Thr
XM_011516312.1:c.3626G>C XP_011514614.1:p.Arg1209Thr
XM_011516313.1:c.3605G>C XP_011514615.1:p.Arg1202Thr
XM_011516314.1:c.3788G>C XP_011514616.1:p.Arg1263Thr
XM_011516315.1:c.3107G>C XP_011514617.1:p.Arg1036Thr
XM_011516308.3:c.4037G>C XP_011514610.3:p.Arg1346Thr
XM_011516309.3:c.4016G>C XP_011514611.3:p.Arg1339Thr
XM_011516310.3:c.3932G>C XP_011514612.3:p.Arg1311Thr
XM_011516311.3:c.3908G>C XP_011514613.3:p.Arg1303Thr
XM_011516312.3:c.3896G>C XP_011514614.3:p.Arg1299Thr
XM_011516313.3:c.3875G>C XP_011514615.2:p.Arg1292Thr
XM_011516315.3:c.3107G>C XP_011514617.2:p.Arg1036Thr
XM_017012323.2:c.3767G>C XP_016867812.1:p.Arg1256Thr
XR_001744809.2:n.4275G>C
NM_000443.4:c.3746G>C MANE Select NP_000434.1:p.Arg1249Thr
NM_018849.3:c.3767G>C NP_061337.1:p.Arg1256Thr
NM_018850.3:c.3605G>C NP_061338.1:p.Arg1202Thr