Canonical Allele Identifier: CA847111481

Gene:

Linked Data

• dbSNP Id: rs1415979353
• gnomAD v3: 8-126999279-T-A
• gnomAD v4: 8-126999279-T-A
• MyVariant Identifiers: chr8:g.128011524T>A (hg19) ; chr8:g.126999279T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999279T>A , CM000670.2:g.126999279T>A	GRCh38
NC_000008.10:g.128011524T>A , CM000670.1:g.128011524T>A	GRCh37
NC_000008.9:g.128080706T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7276T>A