Canonical Allele Identifier: CA672122715

Gene:

Linked Data

• dbSNP Id: rs1325458703
• gnomAD v3: 11-116072611-G-C
• gnomAD v4: 11-116072611-G-C
• MyVariant Identifiers: chr11:g.115943329G>C (hg19) ; chr11:g.116072611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072611G>C , CM000673.2:g.116072611G>C	GRCh38
NC_000011.9:g.115943329G>C , CM000673.1:g.115943329G>C	GRCh37
NC_000011.8:g.115448539G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+403C>G
XR_948056.1:n.311-5406C>G
XR_948057.1:n.97+498C>G
XR_001748401.1:n.192+403C>G
XR_948055.2:n.192+403C>G
XR_948056.2:n.314-5406C>G
XR_948057.2:n.97+498C>G