Canonical Allele Identifier: CA602083516

Gene:

Linked Data

• dbSNP Id: rs1183179918
• gnomAD v2: 11-115943251-G-A
• gnomAD v3: 11-116072533-G-A
• gnomAD v4: 11-116072533-G-A
• MyVariant Identifiers: chr11:g.115943251G>A (hg19) ; chr11:g.116072533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072533G>A , CM000673.2:g.116072533G>A	GRCh38
NC_000011.9:g.115943251G>A , CM000673.1:g.115943251G>A	GRCh37
NC_000011.8:g.115448461G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948055.1:n.192+481C>T
XR_948056.1:n.311-5328C>T
XR_948057.1:n.97+576C>T
XR_001748401.1:n.192+481C>T
XR_948055.2:n.192+481C>T
XR_948056.2:n.314-5328C>T
XR_948057.2:n.97+576C>T