Canonical Allele Identifier: CA262352009

Gene:

Linked Data

• dbSNP Id: rs4899081
• gnomAD v2: 14-62968343-G-A
• gnomAD v3: 14-62501625-G-A
• gnomAD v4: 14-62501625-G-A
• MyVariant Identifiers: chr14:g.62968343G>A (hg19) ; chr14:g.62501625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62501625G>A , CM000676.2:g.62501625G>A	GRCh38
NC_000014.8:g.62968343G>A , CM000676.1:g.62968343G>A	GRCh37
NC_000014.7:g.62038096G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943932.1:n.116-2416G>A
XR_943932.2:n.103-2416G>A