Canonical Allele Identifier: CA836257802

Gene:

Linked Data

• dbSNP Id: rs1415609137
• gnomAD v3: 7-17957957-C-T
• gnomAD v4: 7-17957957-C-T
• MyVariant Identifiers: chr7:g.17997580C>T (hg19) ; chr7:g.17957957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957957C>T , CM000669.2:g.17957957C>T	GRCh38
NC_000007.13:g.17997580C>T , CM000669.1:g.17997580C>T	GRCh37
NC_000007.12:g.17964105C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927078.1:n.271-713C>T