Canonical Allele Identifier: CA10680658
Gene:
COSMIC:
COSN6473681 (not active)
MyVariant.info:
GRCh38 chr1:g.94604485T>C
GRCh37 chr1:g.95070041T>C
gnomAD v2:
1:95070041 T / C
gnomAD v3:
1:94604485 T / C
gnomAD v4:
chr1-94604485-T-C
Joint Max Group AF 0.80801675 (NFE)
Genomes Max Group AF 0.80801675 (NFE)
dbSNP:
7542900
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94604485T>C , CM000663.2:g.94604485T>C GRCh38
NC_000001.10:g.95070041T>C , CM000663.1:g.95070041T>C GRCh37
NC_000001.9:g.94842629T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947609.1:n.145+5011T>C
XR_001738161.1:n.462-31306T>C
Search 100 bp 5'
Search 100 bp 3'