Canonical Allele Identifier: CA836257720

Gene:

Linked Data

• dbSNP Id: rs1388079609
• gnomAD v3: 7-17957839-C-G
• gnomAD v4: 7-17957839-C-G
• MyVariant Identifiers: chr7:g.17997462C>G (hg19) ; chr7:g.17957839C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957839C>G , CM000669.2:g.17957839C>G	GRCh38
NC_000007.13:g.17997462C>G , CM000669.1:g.17997462C>G	GRCh37
NC_000007.12:g.17963987C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-831C>G