Canonical Allele Identifier: CA346663683

Gene: ABCG8

Linked Data

• dbSNP Id: rs1211101138
• gnomAD v3: 2-43846296-A-G
• gnomAD v4: 2-43846296-A-G
• MyVariant Identifiers: chr2:g.44073435A>G (hg19) ; chr2:g.43846296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846296A>G , CM000664.2:g.43846296A>G	GRCh38
NC_000002.11:g.44073435A>G , CM000664.1:g.44073435A>G	GRCh37
NC_000002.10:g.43926939A>G	NCBI36
NG_008884.1:g.12333A>G
NG_008884.2:g.19355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.307A>G MANE Select	ENSP00000272286.2:p.Ile103Val
ENST00000643284.1:n.764A>G
ENST00000644611.1:c.319A>G	ENSP00000495423.1:p.Ile107Val
ENST00000272286.2:c.307A>G	ENSP00000272286.2:p.Ile103Val
NM_022437.2:c.307A>G	NP_071882.1:p.Ile103Val
XM_005264483.2:c.307A>G	XP_005264540.1:p.Ile103Val
XM_011533029.1:c.319A>G	XP_011531331.1:p.Ile107Val
XM_011533030.1:c.319A>G	XP_011531332.1:p.Ile107Val
XM_011533031.1:c.91A>G	XP_011531333.1:p.Ile31Val
XR_939707.1:n.809A>G
NM_001357321.1:c.307A>G	NP_001344250.1:p.Ile103Val
XM_011533029.2:c.319A>G	XP_011531331.1:p.Ile107Val
XM_011533030.2:c.319A>G	XP_011531332.1:p.Ile107Val
XR_001738891.1:n.823A>G
XR_939707.2:n.823A>G
NM_022437.3:c.307A>G MANE Select	NP_071882.1:p.Ile103Val
NM_001357321.2:c.307A>G	NP_001344250.1:p.Ile103Val