Canonical Allele Identifier: CA1637256

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872035G>T , CM000664.2:g.43872035G>T	GRCh38
NC_000002.11:g.44099174G>T , CM000664.1:g.44099174G>T	GRCh37
NC_000002.10:g.43952678G>T	NCBI36
NG_008884.1:g.38072G>T
NG_008884.2:g.45094G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1024G>T MANE Select	NP_071882.1:p.Ala342Ser
ENST00000272286.4:c.1024G>T MANE Select	ENSP00000272286.2:p.Ala342Ser
NM_001357321.1:c.1024G>T	NP_001344250.1:p.Ala342Ser
NM_001357321.2:c.1024G>T	NP_001344250.1:p.Ala342Ser
NM_022437.2:c.1024G>T	NP_071882.1:p.Ala342Ser
ENST00000272286.2:c.1024G>T	ENSP00000272286.2:p.Ala342Ser
ENST00000644611.1:c.1036G>T	ENSP00000495423.1:p.Ala346Ser
XM_005264483.2:c.1024G>T	XP_005264540.1:p.Ala342Ser
XM_011533029.1:c.1036G>T	XP_011531331.1:p.Ala346Ser
XM_011533029.2:c.1036G>T	XP_011531331.1:p.Ala346Ser
XM_011533030.1:c.1036G>T	XP_011531332.1:p.Ala346Ser
XM_011533030.2:c.1036G>T	XP_011531332.1:p.Ala346Ser
XM_011533031.1:c.808G>T	XP_011531333.1:p.Ala270Ser
XR_001738891.1:n.1540G>T
XR_939707.1:n.1526G>T
XR_939707.2:n.1540G>T