Canonical Allele Identifier: CA600536288

Gene:

Linked Data

• dbSNP Id: rs1276307575
• gnomAD v2: 11-80562789-G-A
• gnomAD v3: 11-80851746-G-A
• gnomAD v4: 11-80851746-G-A
• MyVariant Identifiers: chr11:g.80562789G>A (hg19) ; chr11:g.80851746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.80851746G>A , CM000673.2:g.80851746G>A	GRCh38
NC_000011.9:g.80562789G>A , CM000673.1:g.80562789G>A	GRCh37
NC_000011.8:g.80240437G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.124+60545C>T