Canonical Allele Identifier: CA846801806

Gene:

Linked Data

• dbSNP Id: rs1192875908
• gnomAD v3: 8-123753559-T-C
• gnomAD v4: 8-123753559-T-C
• MyVariant Identifiers: chr8:g.124765799T>C (hg19) ; chr8:g.123753559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123753559T>C , CM000670.2:g.123753559T>C	GRCh38
NC_000008.10:g.124765799T>C , CM000670.1:g.124765799T>C	GRCh37
NC_000008.9:g.124834980T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928607.1:n.153-11224T>C
XR_928607.3:n.324-11224T>C