Canonical Allele Identifier: CA300391541

Gene:

Linked Data

• dbSNP Id: rs149155832
• gnomAD v3: 18-49645823-C-T
• gnomAD v4: 18-49645823-C-T
• MyVariant Identifiers: chr18:g.47172193C>T (hg19) ; chr18:g.49645823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49645823C>T , CM000680.2:g.49645823C>T	GRCh38
NC_000018.9:g.47172193C>T , CM000680.1:g.47172193C>T	GRCh37
NC_000018.8:g.45426191C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_935461.1:n.162-16211C>T
XR_001753446.1:n.898-16211C>T