Canonical Allele Identifier: CA1691656460

Gene:

Linked Data

• dbSNP Id: rs1803286194
• gnomAD v3: 7-17957898-C-T
• gnomAD v4: 7-17957898-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957898C>T , CM000669.2:g.17957898C>T	GRCh38
NC_000007.13:g.17997521C>T , CM000669.1:g.17997521C>T	GRCh37
NC_000007.12:g.17964046C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-772C>T