Canonical Allele Identifier: CA160479215

Gene:

Linked Data

• dbSNP Id: rs768519939
• gnomAD v2: 7-68612069-A-C
• gnomAD v3: 7-69147082-A-C
• gnomAD v4: 7-69147082-A-C
• MyVariant Identifiers: chr7:g.68612069A>C (hg19) ; chr7:g.69147082A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69147082A>C , CM000669.2:g.69147082A>C	GRCh38
NC_000007.13:g.68612069A>C , CM000669.1:g.68612069A>C	GRCh37
NC_000007.12:g.68250005A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927647.1:n.88-956T>G