Canonical Allele Identifier: CA346668971
Gene: ABCG8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43872105C>G , CM000664.2:g.43872105C>G GRCh38
NC_000002.11:g.44099244C>G , CM000664.1:g.44099244C>G GRCh37
NC_000002.10:g.43952748C>G NCBI36
NG_008884.1:g.38142C>G
NG_008884.2:g.45164C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.1094C>G MANE Select ENSP00000272286.2:p.Thr365Arg
ENST00000644611.1:c.1106C>G ENSP00000495423.1:p.Thr369Arg
ENST00000272286.2:c.1094C>G ENSP00000272286.2:p.Thr365Arg
NM_022437.2:c.1094C>G NP_071882.1:p.Thr365Arg
XM_005264483.2:c.1094C>G XP_005264540.1:p.Thr365Arg
XM_011533029.1:c.1106C>G XP_011531331.1:p.Thr369Arg
XM_011533030.1:c.1106C>G XP_011531332.1:p.Thr369Arg
XM_011533031.1:c.878C>G XP_011531333.1:p.Thr293Arg
XR_939707.1:n.1596C>G
NM_001357321.1:c.1094C>G NP_001344250.1:p.Thr365Arg
XM_011533029.2:c.1106C>G XP_011531331.1:p.Thr369Arg
XM_011533030.2:c.1106C>G XP_011531332.1:p.Thr369Arg
XR_001738891.1:n.1610C>G
XR_939707.2:n.1610C>G
NM_022437.3:c.1094C>G MANE Select NP_071882.1:p.Thr365Arg
NM_001357321.2:c.1094C>G NP_001344250.1:p.Thr365Arg