Canonical Allele Identifier: CA672122726

Gene:

Linked Data

• dbSNP Id: rs1442319309
• gnomAD v3: 11-116072653-A-G
• gnomAD v4: 11-116072653-A-G
• MyVariant Identifiers: chr11:g.115943371A>G (hg19) ; chr11:g.116072653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072653A>G , CM000673.2:g.116072653A>G	GRCh38
NC_000011.9:g.115943371A>G , CM000673.1:g.115943371A>G	GRCh37
NC_000011.8:g.115448581A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+361T>C
XR_948056.1:n.311-5448T>C
XR_948057.1:n.97+456T>C
XR_001748401.1:n.192+361T>C
XR_948055.2:n.192+361T>C
XR_948056.2:n.314-5448T>C
XR_948057.2:n.97+456T>C