Canonical Allele Identifier: CA602083530

Gene:

Linked Data

• dbSNP Id: rs1395501749
• gnomAD v2: 11-115943318-C-T
• gnomAD v3: 11-116072600-C-T
• gnomAD v4: 11-116072600-C-T
• MyVariant Identifiers: chr11:g.115943318C>T (hg19) ; chr11:g.116072600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072600C>T , CM000673.2:g.116072600C>T	GRCh38
NC_000011.9:g.115943318C>T , CM000673.1:g.115943318C>T	GRCh37
NC_000011.8:g.115448528C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+414G>A
XR_948056.1:n.311-5395G>A
XR_948057.1:n.97+509G>A
XR_001748401.1:n.192+414G>A
XR_948055.2:n.192+414G>A
XR_948056.2:n.314-5395G>A
XR_948057.2:n.97+509G>A