Canonical Allele Identifier: CA706619722

Gene:

Linked Data

• dbSNP Id: rs1324845755
• gnomAD v3: 14-50856985-C-A
• gnomAD v4: 14-50856985-C-A
• MyVariant Identifiers: chr14:g.51323703C>A (hg19) ; chr14:g.50856985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50856985C>A , CM000676.2:g.50856985C>A	GRCh38
NC_000014.8:g.51323703C>A , CM000676.1:g.51323703C>A	GRCh37
NC_000014.7:g.50393453C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943848.1:n.282+1113G>T
XR_943848.2:n.643+1113G>T