Canonical Allele Identifier: CA16956854

Gene:

Linked Data

• dbSNP Id: rs1028422029
• gnomAD v2: 1-2498875-C-G
• gnomAD v3: 1-2567436-C-G
• gnomAD v4: 1-2567436-C-G
• MyVariant Identifiers: chr1:g.2498875C>G (hg19) ; chr1:g.2567436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567436C>G , CM000663.2:g.2567436C>G	GRCh38
NC_000001.10:g.2498875C>G , CM000663.1:g.2498875C>G	GRCh37
NC_000001.9:g.2475543G>C	NCBI36
NG_047096.1:g.16072C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_121638.1:n.71+831C>G