Canonical Allele Identifier: CA2493965138
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877802G= , CM000664.2:g.43877802G= GRCh38
NC_000002.11:g.44104941G= , CM000664.1:g.44104941G= GRCh37
NC_000002.10:g.43958445G= NCBI36
NG_008884.1:g.43839G=
NG_008884.2:g.50861G=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.1911G= MANE Select ENSP00000272286.2:p.Ser637=
ENST00000272286.2:c.1911G= ENSP00000272286.2:p.Ser637=
NM_022437.2:c.1911G= NP_071882.1:p.Ser637=
XM_005264483.2:c.1908G= XP_005264540.1:p.Ser636=
XM_011533029.1:c.1923G= XP_011531331.1:p.Ser641=
XM_011533030.1:c.1920G= XP_011531332.1:p.Ser640=
XM_011533031.1:c.1695G= XP_011531333.1:p.Ser565=
XR_939707.1:n.2413G=
NM_001357321.1:c.1908G= NP_001344250.1:p.Ser636=
XM_011533029.2:c.1923G= XP_011531331.1:p.Ser641=
XM_011533030.2:c.1920G= XP_011531332.1:p.Ser640=
XR_001738891.1:n.2427G=
XR_939707.2:n.2427G=
NM_022437.3:c.1911G= MANE Select NP_071882.1:p.Ser637=
NM_001357321.2:c.1908G= NP_001344250.1:p.Ser636=