Canonical Allele Identifier: CA346669336

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43873845G>T , CM000664.2:g.43873845G>T	GRCh38
NC_000002.11:g.44100984G>T , CM000664.1:g.44100984G>T	GRCh37
NC_000002.10:g.43954488G>T	NCBI36
NG_008884.1:g.39882G>T
NG_008884.2:g.46904G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1270G>T MANE Select	NP_071882.1:p.Ala424Ser
ENST00000272286.4:c.1270G>T MANE Select	ENSP00000272286.2:p.Ala424Ser
NM_001357321.1:c.1267G>T	NP_001344250.1:p.Ala423Ser
NM_001357321.2:c.1267G>T	NP_001344250.1:p.Ala423Ser
NM_022437.2:c.1270G>T	NP_071882.1:p.Ala424Ser
ENST00000272286.2:c.1270G>T	ENSP00000272286.2:p.Ala424Ser
ENST00000644611.1:c.1282G>T	ENSP00000495423.1:p.Ala428Ser
XM_005264483.2:c.1267G>T	XP_005264540.1:p.Ala423Ser
XM_011533029.1:c.1282G>T	XP_011531331.1:p.Ala428Ser
XM_011533029.2:c.1282G>T	XP_011531331.1:p.Ala428Ser
XM_011533030.1:c.1279G>T	XP_011531332.1:p.Ala427Ser
XM_011533030.2:c.1279G>T	XP_011531332.1:p.Ala427Ser
XM_011533031.1:c.1054G>T	XP_011531333.1:p.Ala352Ser
XR_001738891.1:n.1786G>T
XR_939707.1:n.1772G>T
XR_939707.2:n.1786G>T