Canonical Allele Identifier: CA1637689

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877681G>T , CM000664.2:g.43877681G>T	GRCh38
NC_000002.11:g.44104820G>T , CM000664.1:g.44104820G>T	GRCh37
NC_000002.10:g.43958324G>T	NCBI36
NG_008884.1:g.43718G>T
NG_008884.2:g.50740G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1877G>T MANE Select	NP_071882.1:p.Gly626Val
ENST00000272286.4:c.1877G>T MANE Select	ENSP00000272286.2:p.Gly626Val
NM_001357321.1:c.1874G>T	NP_001344250.1:p.Gly625Val
NM_001357321.2:c.1874G>T	NP_001344250.1:p.Gly625Val
NM_022437.2:c.1877G>T	NP_071882.1:p.Gly626Val
ENST00000272286.2:c.1877G>T	ENSP00000272286.2:p.Gly626Val
XM_005264483.2:c.1874G>T	XP_005264540.1:p.Gly625Val
XM_011533029.1:c.1889G>T	XP_011531331.1:p.Gly630Val
XM_011533029.2:c.1889G>T	XP_011531331.1:p.Gly630Val
XM_011533030.1:c.1886G>T	XP_011531332.1:p.Gly629Val
XM_011533030.2:c.1886G>T	XP_011531332.1:p.Gly629Val
XM_011533031.1:c.1661G>T	XP_011531333.1:p.Gly554Val
XR_001738891.1:n.2393G>T
XR_939707.1:n.2379G>T
XR_939707.2:n.2393G>T