Canonical Allele Identifier: CA300390173
Gene:
COSMIC:
COSN17600338 (not active)
MyVariant.info:
GRCh38 chr18:g.49634583G>T
GRCh37 chr18:g.47160953G>T
gnomAD v2:
18:47160953 G / T
gnomAD v3:
18:49634583 G / T
gnomAD v4:
chr18-49634583-G-T
Joint Max Group AF 0.94792353 (AFR)
Genomes Max Group AF 0.94792353 (AFR)
dbSNP:
7241918
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49634583G>T , CM000680.2:g.49634583G>T GRCh38
NC_000018.9:g.47160953G>T , CM000680.1:g.47160953G>T GRCh37
NC_000018.8:g.45414951G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935461.1:n.161+21714G>T
XR_001753446.1:n.897+21714G>T
Search 100 bp 5'
Search 100 bp 3'