Canonical Allele Identifier: CA16956847

Gene:

Linked Data

• dbSNP Id: rs997849429
• gnomAD v2: 1-2498871-G-A
• gnomAD v3: 1-2567432-G-A
• gnomAD v4: 1-2567432-G-A
• MyVariant Identifiers: chr1:g.2498871G>A (hg19) ; chr1:g.2567432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567432G>A , CM000663.2:g.2567432G>A	GRCh38
NC_000001.10:g.2498871G>A , CM000663.1:g.2498871G>A	GRCh37
NC_000001.9:g.2475547C>T	NCBI36
NG_047096.1:g.16068G>A

Transcript Alleles

HGVS	Amino-acid Change
NR_121638.1:n.71+827G>A