Canonical Allele Identifier: CA10708705
Gene: EXO1 HGNC NCBI
COSMIC:
COSN6450299 (not active)
MyVariant.info:
GRCh38 chr1:g.241848042C>G
GRCh37 chr1:g.242011344C>G
gnomAD v2:
1:242011344 C / G
gnomAD v3:
1:241848042 C / G
gnomAD v4:
chr1-241848042-C-G
Joint Max Group AF 0.77736668 (EAS)
Genomes Max Group AF 0.77728542 (EAS)
Exomes Max Group AF 0.39504795 (NFE)
dbSNP:
1776180
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241848042C>G , CM000663.2:g.241848042C>G GRCh38
NC_000001.10:g.242011344C>G , CM000663.1:g.242011344C>G GRCh37
NC_000001.9:g.240077967C>G NCBI36
NG_029100.1:g.4852C>G
NG_029100.2:g.4852C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000519225.5:c.-473C>G ENSP00000429720.1:n.-473C>G
XM_011544322.1:c.-473C>G XP_011542624.1:n.-473C>G
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