Canonical Allele Identifier: CA680801433

Gene:

Linked Data

• dbSNP Id: rs1389591913
• gnomAD v3: 11-80851703-T-C
• gnomAD v4: 11-80851703-T-C
• MyVariant Identifiers: chr11:g.80562746T>C (hg19) ; chr11:g.80851703T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.80851703T>C , CM000673.2:g.80851703T>C	GRCh38
NC_000011.9:g.80562746T>C , CM000673.1:g.80562746T>C	GRCh37
NC_000011.8:g.80240394T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.124+60588A>G