Canonical Allele Identifier: CA13397957

Gene:

Linked Data

• dbSNP Id: rs1426391
• gnomAD v2: 11-115943253-A-C
• gnomAD v3: 11-116072535-A-C
• gnomAD v4: 11-116072535-A-C
• MyVariant Identifiers: chr11:g.115943253A>C (hg19) ; chr11:g.116072535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072535A>C , CM000673.2:g.116072535A>C	GRCh38
NC_000011.9:g.115943253A>C , CM000673.1:g.115943253A>C	GRCh37
NC_000011.8:g.115448463A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+479T>G
XR_948056.1:n.311-5330T>G
XR_948057.1:n.97+574T>G
XR_001748401.1:n.192+479T>G
XR_948055.2:n.192+479T>G
XR_948056.2:n.314-5330T>G
XR_948057.2:n.97+574T>G