Canonical Allele Identifier: CA1637609

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875400C>A , CM000664.2:g.43875400C>A	GRCh38
NC_000002.11:g.44102539C>A , CM000664.1:g.44102539C>A	GRCh37
NC_000002.10:g.43956043C>A	NCBI36
NG_008884.1:g.41437C>A
NG_008884.2:g.48459C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1743C>A MANE Select	NP_071882.1:p.Ser581Arg
ENST00000272286.4:c.1743C>A MANE Select	ENSP00000272286.2:p.Ser581Arg
NM_001357321.1:c.1740C>A	NP_001344250.1:p.Ser580Arg
NM_001357321.2:c.1740C>A	NP_001344250.1:p.Ser580Arg
NM_022437.2:c.1743C>A	NP_071882.1:p.Ser581Arg
ENST00000272286.2:c.1743C>A	ENSP00000272286.2:p.Ser581Arg
XM_005264483.2:c.1740C>A	XP_005264540.1:p.Ser580Arg
XM_011533029.1:c.1755C>A	XP_011531331.1:p.Ser585Arg
XM_011533029.2:c.1755C>A	XP_011531331.1:p.Ser585Arg
XM_011533030.1:c.1752C>A	XP_011531332.1:p.Ser584Arg
XM_011533030.2:c.1752C>A	XP_011531332.1:p.Ser584Arg
XM_011533031.1:c.1527C>A	XP_011531333.1:p.Ser509Arg
XR_001738891.1:n.2259C>A
XR_939707.1:n.2245C>A
XR_939707.2:n.2259C>A