Canonical Allele Identifier: CA2493965321
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43878125A= , CM000664.2:g.43878125A= GRCh38
NC_000002.11:g.44105264A= , CM000664.1:g.44105264A= GRCh37
NC_000002.10:g.43958768A= NCBI36
NG_008884.1:g.44162A=
NG_008884.2:g.51184A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.*212A= MANE Select ENSP00000272286.2:n.*212A=
ENST00000272286.2:c.*212A= ENSP00000272286.2:n.*212A=
NM_022437.2:c.*212A= NP_071882.1:n.*212A=
XM_005264483.2:c.*212A= XP_005264540.1:n.*212A=
XM_011533029.1:c.*212A= XP_011531331.1:n.*212A=
XM_011533030.1:c.*212A= XP_011531332.1:n.*212A=
XM_011533031.1:c.*212A= XP_011531333.1:n.*212A=
XR_939707.1:n.2736A=
NM_001357321.1:c.*212A= NP_001344250.1:n.*212A=
XM_011533029.2:c.*212A= XP_011531331.1:n.*212A=
XM_011533030.2:c.*212A= XP_011531332.1:n.*212A=
XR_001738891.1:n.2750A=
XR_939707.2:n.2750A=
NM_022437.3:c.*212A= MANE Select NP_071882.1:n.*212A=
NM_001357321.2:c.*212A= NP_001344250.1:n.*212A=