Canonical Allele Identifier: CA7329603

Gene:

Linked Data

• dbSNP Id: rs769424729
• ExAC: 14:95078688 C / G
• gnomAD v4: 14-94612351-C-G
• MyVariant Identifiers: chr14:g.95078688C>G (hg19) ; chr14:g.94612351C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94612351C>G , CM000676.2:g.94612351C>G	GRCh38
NC_000014.8:g.95078688C>G , CM000676.1:g.95078688C>G	GRCh37
NC_000014.7:g.94148441C>G	NCBI36
NG_012879.1:g.4975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553947.1:c.859C>G