Canonical Allele Identifier: CA615836711

Gene:

Linked Data

• dbSNP Id: rs1371259182
• gnomAD v2: 14-95078682-G-A
• gnomAD v3: 14-94612345-G-A
• gnomAD v4: 14-94612345-G-A
• MyVariant Identifiers: chr14:g.95078682G>A (hg19) ; chr14:g.94612345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94612345G>A , CM000676.2:g.94612345G>A	GRCh38
NC_000014.8:g.95078682G>A , CM000676.1:g.95078682G>A	GRCh37
NC_000014.7:g.94148435G>A	NCBI36
NG_012879.1:g.4969G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553947.1:c.853G>A