Canonical Allele Identifier: CA706619701

Gene:

Linked Data

• dbSNP Id: rs1247560042
• gnomAD v3: 14-50856947-T-G
• gnomAD v4: 14-50856947-T-G
• MyVariant Identifiers: chr14:g.51323665T>G (hg19) ; chr14:g.50856947T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856947T>G , CM000676.2:g.50856947T>G	GRCh38
NC_000014.8:g.51323665T>G , CM000676.1:g.51323665T>G	GRCh37
NC_000014.7:g.50393415T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943848.1:n.282+1151A>C
XR_943848.2:n.643+1151A>C