Canonical Allele Identifier: CA15832782

Gene:

Linked Data

• dbSNP Id: rs17832777
• gnomAD v2: 14-56886686-A-C
• gnomAD v3: 14-56419968-A-C
• gnomAD v4: 14-56419968-A-C
• MyVariant Identifiers: chr14:g.56886686A>C (hg19) ; chr14:g.56419968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56419968A>C , CM000676.2:g.56419968A>C	GRCh38
NC_000014.8:g.56886686A>C , CM000676.1:g.56886686A>C	GRCh37
NC_000014.7:g.55956439A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943903.1:n.202-6220A>C