Canonical Allele Identifier: CA262352020

Gene:

Linked Data

• dbSNP Id: rs115685844
• gnomAD v2: 14-62968434-A-G
• gnomAD v3: 14-62501716-A-G
• gnomAD v4: 14-62501716-A-G
• COSMIC: COSN6255876
• MyVariant Identifiers: chr14:g.62968434A>G (hg19) ; chr14:g.62501716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62501716A>G , CM000676.2:g.62501716A>G	GRCh38
NC_000014.8:g.62968434A>G , CM000676.1:g.62968434A>G	GRCh37
NC_000014.7:g.62038187A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943932.1:n.116-2325A>G
XR_943932.2:n.103-2325A>G