Canonical Allele Identifier: CA672122696

Gene:

Linked Data

• dbSNP Id: rs555952391
• gnomAD v3: 11-116072592-C-G
• gnomAD v4: 11-116072592-C-G
• MyVariant Identifiers: chr11:g.115943310C>G (hg19) ; chr11:g.116072592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072592C>G , CM000673.2:g.116072592C>G	GRCh38
NC_000011.9:g.115943310C>G , CM000673.1:g.115943310C>G	GRCh37
NC_000011.8:g.115448520C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+422G>C
XR_948056.1:n.311-5387G>C
XR_948057.1:n.97+517G>C
XR_001748401.1:n.192+422G>C
XR_948055.2:n.192+422G>C
XR_948056.2:n.314-5387G>C
XR_948057.2:n.97+517G>C