Canonical Allele Identifier: CA846959270

Gene:

Linked Data

• dbSNP Id: rs1442237727
• gnomAD v3: 8-125478783-C-G
• gnomAD v4: 8-125478783-C-G
• MyVariant Identifiers: chr8:g.126491025C>G (hg19) ; chr8:g.125478783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478783C>G , CM000670.2:g.125478783C>G	GRCh38
NC_000008.10:g.126491025C>G , CM000670.1:g.126491025C>G	GRCh37
NC_000008.9:g.126560207C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5469C>G