Canonical Allele Identifier: CA46434525

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846157G>A , CM000664.2:g.43846157G>A	GRCh38
NC_000002.11:g.44073296G>A , CM000664.1:g.44073296G>A	GRCh37
NC_000002.10:g.43926800G>A	NCBI36
NG_008884.1:g.12194G>A
NG_008884.2:g.19216G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.168G>A MANE Select	NP_071882.1:p.Val56=
ENST00000272286.4:c.168G>A MANE Select	ENSP00000272286.2:p.Val56=
NM_001357321.1:c.168G>A	NP_001344250.1:p.Val56=
NM_001357321.2:c.168G>A	NP_001344250.1:p.Val56=
NM_022437.2:c.168G>A	NP_071882.1:p.Val56=
ENST00000272286.2:c.168G>A	ENSP00000272286.2:p.Val56=
ENST00000643284.1:n.625G>A
ENST00000644611.1:c.180G>A	ENSP00000495423.1:p.Val60=
XM_005264483.2:c.168G>A	XP_005264540.1:p.Val56=
XM_011533029.1:c.180G>A	XP_011531331.1:p.Val60=
XM_011533029.2:c.180G>A	XP_011531331.1:p.Val60=
XM_011533030.1:c.180G>A	XP_011531332.1:p.Val60=
XM_011533030.2:c.180G>A	XP_011531332.1:p.Val60=
XM_011533031.1:c.-49G>A	XP_011531333.1:n.-49G>A
XR_001738891.1:n.684G>A
XR_939707.1:n.670G>A
XR_939707.2:n.684G>A