Canonical Allele Identifier: CA16060381
Gene:
COSMIC:
COSN6472682 (not active)
MyVariant.info:
GRCh38 chr1:g.90478350A>G
GRCh37 chr1:g.90943907A>G
gnomAD v2:
1:90943907 A / G
gnomAD v3:
1:90478350 A / G
gnomAD v4:
chr1-90478350-A-G
Joint Max Group AF 0.3204794 (EAS)
Genomes Max Group AF 0.3204794 (EAS)
dbSNP:
2390582
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.90478350A>G , CM000663.2:g.90478350A>G GRCh38
NC_000001.10:g.90943907A>G , CM000663.1:g.90943907A>G GRCh37
NC_000001.9:g.90716495A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947591.1:n.139+418T>C
XR_947591.2:n.151+418T>C
Search 100 bp 5'
Search 100 bp 3'