Canonical Allele Identifier: CA346670597

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1778076
• ClinVar RCV Id: RCV002406131
• dbSNP Id: rs1455722877
• gnomAD v3: 2-43875346-C-G
• gnomAD v4: 2-43875346-C-G
• MyVariant Identifiers: chr2:g.44102485C>G (hg19) ; chr2:g.43875346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875346C>G , CM000664.2:g.43875346C>G	GRCh38
NC_000002.11:g.44102485C>G , CM000664.1:g.44102485C>G	GRCh37
NC_000002.10:g.43955989C>G	NCBI36
NG_008884.1:g.41383C>G
NG_008884.2:g.48405C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1689C>G MANE Select	ENSP00000272286.2:p.Ser563Arg
ENST00000272286.2:c.1689C>G	ENSP00000272286.2:p.Ser563Arg
NM_022437.2:c.1689C>G	NP_071882.1:p.Ser563Arg
XM_005264483.2:c.1686C>G	XP_005264540.1:p.Ser562Arg
XM_011533029.1:c.1701C>G	XP_011531331.1:p.Ser567Arg
XM_011533030.1:c.1698C>G	XP_011531332.1:p.Ser566Arg
XM_011533031.1:c.1473C>G	XP_011531333.1:p.Ser491Arg
XR_939707.1:n.2191C>G
NM_001357321.1:c.1686C>G	NP_001344250.1:p.Ser562Arg
XM_011533029.2:c.1701C>G	XP_011531331.1:p.Ser567Arg
XM_011533030.2:c.1698C>G	XP_011531332.1:p.Ser566Arg
XR_001738891.1:n.2205C>G
XR_939707.2:n.2205C>G
NM_022437.3:c.1689C>G MANE Select	NP_071882.1:p.Ser563Arg
NM_001357321.2:c.1686C>G	NP_001344250.1:p.Ser562Arg