Canonical Allele Identifier: CA592700125

Gene:

Linked Data

• dbSNP Id: rs1367245670
• gnomAD v2: 10-30490629-C-T
• gnomAD v3: 10-30201700-C-T
• gnomAD v4: 10-30201700-C-T
• MyVariant Identifiers: chr10:g.30490629C>T (hg19) ; chr10:g.30201700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30201700C>T , CM000672.2:g.30201700C>T	GRCh38
NC_000010.10:g.30490629C>T , CM000672.1:g.30490629C>T	GRCh37
NC_000010.9:g.30530635C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930791.1:n.1193-1787C>T
XR_930791.2:n.1449-1787C>T