Canonical Allele Identifier: CA836257784

Gene:

Linked Data

• dbSNP Id: rs1228082869
• gnomAD v3: 7-17957916-G-C
• gnomAD v4: 7-17957916-G-C
• MyVariant Identifiers: chr7:g.17997539G>C (hg19) ; chr7:g.17957916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957916G>C , CM000669.2:g.17957916G>C	GRCh38
NC_000007.13:g.17997539G>C , CM000669.1:g.17997539G>C	GRCh37
NC_000007.12:g.17964064G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-754G>C