Canonical Allele Identifier: CA22546676

Gene:

Linked Data

• dbSNP Id: rs115417985
• gnomAD v2: 1-53021252-T-C
• gnomAD v3: 1-52555580-T-C
• gnomAD v4: 1-52555580-T-C
• MyVariant Identifiers: chr1:g.53021252T>C (hg19) ; chr1:g.52555580T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52555580T>C , CM000663.2:g.52555580T>C	GRCh38
NC_000001.10:g.53021252T>C , CM000663.1:g.53021252T>C	GRCh37
NC_000001.9:g.52793840T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011542509.1:c.340+2169T>C	XP_011540811.1:n.340+2169T>C