Canonical Allele Identifier: CA425751227

Gene: ABCG8

Linked Data

• COSMIC: COSM1483104
• MyVariant Identifiers: chr2:g.44071747G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844608G>A , CM000664.2:g.43844608G>A	GRCh38
NC_000002.11:g.44071747G>A , CM000664.1:g.44071747G>A	GRCh37
NC_000002.10:g.43925251G>A	NCBI36
NG_008884.1:g.10645G>A
NG_008884.2:g.17667G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.165G>A MANE Select	ENSP00000272286.2:p.Gln55=
ENST00000643284.1:n.622G>A
ENST00000644611.1:c.177G>A	ENSP00000495423.1:p.Gln59=
ENST00000272286.2:c.165G>A	ENSP00000272286.2:p.Gln55=
NM_022437.2:c.165G>A	NP_071882.1:p.Gln55=
XM_005264483.2:c.165G>A	XP_005264540.1:p.Gln55=
XM_011533029.1:c.177G>A	XP_011531331.1:p.Gln59=
XM_011533030.1:c.177G>A	XP_011531332.1:p.Gln59=
XM_011533031.1:c.-52G>A	XP_011531333.1:n.-52G>A
XR_939707.1:n.667G>A
NM_001357321.1:c.165G>A	NP_001344250.1:p.Gln55=
XM_011533029.2:c.177G>A	XP_011531331.1:p.Gln59=
XM_011533030.2:c.177G>A	XP_011531332.1:p.Gln59=
XR_001738891.1:n.681G>A
XR_939707.2:n.681G>A
NM_022437.3:c.165G>A MANE Select	NP_071882.1:p.Gln55=
NM_001357321.2:c.165G>A	NP_001344250.1:p.Gln55=