Canonical Allele Identifier: CA7329598

Gene:

Linked Data

• dbSNP Id: rs777593159
• ExAC: 14:95078680 G / C
• gnomAD v2: 14-95078680-G-C
• gnomAD v3: 14-94612343-G-C
• gnomAD v4: 14-94612343-G-C
• MyVariant Identifiers: chr14:g.95078680G>C (hg19) ; chr14:g.94612343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94612343G>C , CM000676.2:g.94612343G>C	GRCh38
NC_000014.8:g.95078680G>C , CM000676.1:g.95078680G>C	GRCh37
NC_000014.7:g.94148433G>C	NCBI36
NG_012879.1:g.4967G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553947.1:c.851G>C