Canonical Allele Identifier: CA1637551

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875253C>T , CM000664.2:g.43875253C>T	GRCh38
NC_000002.11:g.44102392C>T , CM000664.1:g.44102392C>T	GRCh37
NC_000002.10:g.43955896C>T	NCBI36
NG_008884.1:g.41290C>T
NG_008884.2:g.48312C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1596C>T MANE Select	NP_071882.1:p.Phe532=
ENST00000272286.4:c.1596C>T MANE Select	ENSP00000272286.2:p.Phe532=
NM_001357321.1:c.1593C>T	NP_001344250.1:p.Phe531=
NM_001357321.2:c.1593C>T	NP_001344250.1:p.Phe531=
NM_022437.2:c.1596C>T	NP_071882.1:p.Phe532=
ENST00000272286.2:c.1596C>T	ENSP00000272286.2:p.Phe532=
XM_005264483.2:c.1593C>T	XP_005264540.1:p.Phe531=
XM_011533029.1:c.1608C>T	XP_011531331.1:p.Phe536=
XM_011533029.2:c.1608C>T	XP_011531331.1:p.Phe536=
XM_011533030.1:c.1605C>T	XP_011531332.1:p.Phe535=
XM_011533030.2:c.1605C>T	XP_011531332.1:p.Phe535=
XM_011533031.1:c.1380C>T	XP_011531333.1:p.Phe460=
XR_001738891.1:n.2112C>T
XR_939707.1:n.2098C>T
XR_939707.2:n.2112C>T