Canonical Allele Identifier: CA10899445
Gene:
COSMIC:
COSN17134497 (not active)
COSN17138200 (not active)
COSN17139991 (not active)
COSN17143114 (not active)
COSN17143903 (not active)
COSN17145745 (not active)
COSN17147540 (not active)
COSN17151175 (not active)
COSN17152234 (not active)
MyVariant.info:
GRCh38 chr1:g.22164231C>A
GRCh37 chr1:g.22490724C>A
gnomAD v2:
1:22490724 C / A
gnomAD v3:
1:22164231 C / A
gnomAD v4:
chr1-22164231-C-A
Joint Max Group AF 0.49097475 (EAS)
Genomes Max Group AF 0.49097475 (EAS)
dbSNP:
7521902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22164231C>A , CM000663.2:g.22164231C>A GRCh38
NC_000001.10:g.22490724C>A , CM000663.1:g.22490724C>A GRCh37
NC_000001.9:g.22363311C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947057.1:n.113+735C>A
XR_947057.2:n.2534+735C>A
Search 100 bp 5'
Search 100 bp 3'