Canonical Allele Identifier: CA346670659

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875377G>T , CM000664.2:g.43875377G>T	GRCh38
NC_000002.11:g.44102516G>T , CM000664.1:g.44102516G>T	GRCh37
NC_000002.10:g.43956020G>T	NCBI36
NG_008884.1:g.41414G>T
NG_008884.2:g.48436G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1720G>T MANE Select	NP_071882.1:p.Gly574Trp
ENST00000272286.4:c.1720G>T MANE Select	ENSP00000272286.2:p.Gly574Trp
NM_001357321.1:c.1717G>T	NP_001344250.1:p.Gly573Trp
NM_001357321.2:c.1717G>T	NP_001344250.1:p.Gly573Trp
NM_022437.2:c.1720G>T	NP_071882.1:p.Gly574Trp
ENST00000272286.2:c.1720G>T	ENSP00000272286.2:p.Gly574Trp
XM_005264483.2:c.1717G>T	XP_005264540.1:p.Gly573Trp
XM_011533029.1:c.1732G>T	XP_011531331.1:p.Gly578Trp
XM_011533029.2:c.1732G>T	XP_011531331.1:p.Gly578Trp
XM_011533030.1:c.1729G>T	XP_011531332.1:p.Gly577Trp
XM_011533030.2:c.1729G>T	XP_011531332.1:p.Gly577Trp
XM_011533031.1:c.1504G>T	XP_011531333.1:p.Gly502Trp
XR_001738891.1:n.2236G>T
XR_939707.1:n.2222G>T
XR_939707.2:n.2236G>T