Canonical Allele Identifier: CA672220132

Gene:

Linked Data

• dbSNP Id: rs1330605062
• gnomAD v3: 11-116442780-C-T
• gnomAD v4: 11-116442780-C-T
• MyVariant Identifiers: chr11:g.116313497C>T (hg19) ; chr11:g.116442780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116442780C>T , CM000673.2:g.116442780C>T	GRCh38
NC_000011.9:g.116313497C>T , CM000673.1:g.116313497C>T	GRCh37
NC_000011.8:g.115818707C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001748403.1:n.349+31097G>A