Canonical Allele Identifier: CA46441648

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852715C>T , CM000664.2:g.43852715C>T	GRCh38
NC_000002.11:g.44079854C>T , CM000664.1:g.44079854C>T	GRCh37
NC_000002.10:g.43933358C>T	NCBI36
NG_008884.1:g.18752C>T
NG_008884.2:g.25774C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.811C>T MANE Select	NP_071882.1:p.Gln271Ter
ENST00000272286.4:c.811C>T MANE Select	ENSP00000272286.2:p.Gln271Ter
NM_001357321.1:c.811C>T	NP_001344250.1:p.Gln271Ter
NM_001357321.2:c.811C>T	NP_001344250.1:p.Gln271Ter
NM_022437.2:c.811C>T	NP_071882.1:p.Gln271Ter
ENST00000272286.2:c.811C>T	ENSP00000272286.2:p.Gln271Ter
ENST00000644611.1:c.823C>T	ENSP00000495423.1:p.Gln275Ter
XM_005264483.2:c.811C>T	XP_005264540.1:p.Gln271Ter
XM_011533029.1:c.823C>T	XP_011531331.1:p.Gln275Ter
XM_011533029.2:c.823C>T	XP_011531331.1:p.Gln275Ter
XM_011533030.1:c.823C>T	XP_011531332.1:p.Gln275Ter
XM_011533030.2:c.823C>T	XP_011531332.1:p.Gln275Ter
XM_011533031.1:c.595C>T	XP_011531333.1:p.Gln199Ter
XR_001738891.1:n.1327C>T
XR_939707.1:n.1313C>T
XR_939707.2:n.1327C>T