Canonical Allele Identifier: CA652609130
Gene:

Linked Data

dbSNP Id: rs1388231977
gnomAD v3: 8-122396104-G-A
gnomAD v4: 8-122396104-G-A
COSMIC: COSN15899266 COSN16025991
MyVariant Identifiers: chr8:g.123408343G>A (hg19) chr8:g.122396104G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396104G>A , CM000670.2:g.122396104G>A GRCh38
NC_000008.10:g.123408343G>A , CM000670.1:g.123408343G>A GRCh37
NC_000008.9:g.123477524G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3068C>T
XR_928599.3:n.152+3068C>T
Search 100 bp 5'
Search 100 bp 3'