Canonical Allele Identifier: CA346663633

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1476114
• ClinVar RCV Id: RCV001977788
• dbSNP Id: rs2104912533
• gnomAD v4: 2-43846273-T-G
• MyVariant Identifiers: chr2:g.44073412T>G (hg19) ; chr2:g.43846273T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846273T>G , CM000664.2:g.43846273T>G	GRCh38
NC_000002.11:g.44073412T>G , CM000664.1:g.44073412T>G	GRCh37
NC_000002.10:g.43926916T>G	NCBI36
NG_008884.1:g.12310T>G
NG_008884.2:g.19332T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.284T>G MANE Select	ENSP00000272286.2:p.Val95Gly
ENST00000643284.1:n.741T>G
ENST00000644611.1:c.296T>G	ENSP00000495423.1:p.Val99Gly
ENST00000272286.2:c.284T>G	ENSP00000272286.2:p.Val95Gly
NM_022437.2:c.284T>G	NP_071882.1:p.Val95Gly
XM_005264483.2:c.284T>G	XP_005264540.1:p.Val95Gly
XM_011533029.1:c.296T>G	XP_011531331.1:p.Val99Gly
XM_011533030.1:c.296T>G	XP_011531332.1:p.Val99Gly
XM_011533031.1:c.68T>G	XP_011531333.1:p.Val23Gly
XR_939707.1:n.786T>G
NM_001357321.1:c.284T>G	NP_001344250.1:p.Val95Gly
XM_011533029.2:c.296T>G	XP_011531331.1:p.Val99Gly
XM_011533030.2:c.296T>G	XP_011531332.1:p.Val99Gly
XR_001738891.1:n.800T>G
XR_939707.2:n.800T>G
NM_022437.3:c.284T>G MANE Select	NP_071882.1:p.Val95Gly
NM_001357321.2:c.284T>G	NP_001344250.1:p.Val95Gly