Canonical Allele Identifier: CA229981150

Gene:

Linked Data

• dbSNP Id: rs1038096243
• gnomAD v2: 11-115943311-G-A
• gnomAD v3: 11-116072593-G-A
• gnomAD v4: 11-116072593-G-A
• MyVariant Identifiers: chr11:g.115943311G>A (hg19) ; chr11:g.116072593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072593G>A , CM000673.2:g.116072593G>A	GRCh38
NC_000011.9:g.115943311G>A , CM000673.1:g.115943311G>A	GRCh37
NC_000011.8:g.115448521G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+421C>T
XR_948056.1:n.311-5388C>T
XR_948057.1:n.97+516C>T
XR_001748401.1:n.192+421C>T
XR_948055.2:n.192+421C>T
XR_948056.2:n.314-5388C>T
XR_948057.2:n.97+516C>T