Canonical Allele Identifier: CA598508620

Gene:

Linked Data

• dbSNP Id: rs1242889873
• gnomAD v2: 11-34780932-T-A
• gnomAD v3: 11-34759385-T-A
• gnomAD v4: 11-34759385-T-A
• MyVariant Identifiers: chr11:g.34780932T>A (hg19) ; chr11:g.34759385T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34759385T>A , CM000673.2:g.34759385T>A	GRCh38
NC_000011.9:g.34780932T>A , CM000673.1:g.34780932T>A	GRCh37
NC_000011.8:g.34737508T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428897.2:n.579+4778T>A
XR_931188.1:n.693+4778T>A
XR_931189.1:n.854+4778T>A
XR_931190.1:n.639+4778T>A
XR_931191.1:n.689+4778T>A
XR_001748174.1:n.855+4778T>A
XR_001748176.1:n.1016+4778T>A
XR_002957246.1:n.639+4778T>A