Canonical Allele Identifier: CA219833901

Gene:

Linked Data

• dbSNP Id: rs774996526
• gnomAD v4: 11-27484077-C-T
• MyVariant Identifiers: chr11:g.27505624C>T (hg19) ; chr11:g.27484077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.27484077C>T , CM000673.2:g.27484077C>T	GRCh38
NC_000011.9:g.27505624C>T , CM000673.1:g.27505624C>T	GRCh37
NC_000011.8:g.27462200C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496450.1:n.228C>T