Canonical Allele Identifier: CA15187480
Gene: DIRC3 HGNC NCBI
COSMIC:
COSN17132984 (not active)
COSN17133810 (not active)
COSN17134639 (not active)
COSN17135583 (not active)
COSN17137382 (not active)
COSN17138343 (not active)
COSN17139256 (not active)
COSN17140153 (not active)
COSN17140997 (not active)
COSN17143251 (not active)
COSN17144055 (not active)
COSN17145026 (not active)
COSN17145917 (not active)
COSN17146810 (not active)
COSN17147714 (not active)
COSN17149497 (not active)
COSN17150399 (not active)
MyVariant.info:
GRCh38 chr2:g.217445617C>T
GRCh37 chr2:g.218310340C>T
gnomAD v2:
2:218310340 C / T
gnomAD v3:
2:217445617 C / T
gnomAD v4:
chr2-217445617-C-T
Joint Max Group AF 0.58330699 (NFE)
Genomes Max Group AF 0.58330699 (NFE)
dbSNP:
966423
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.217445617C>T , CM000664.2:g.217445617C>T GRCh38
NC_000002.11:g.218310340C>T , CM000664.1:g.218310340C>T GRCh37
NC_000002.10:g.218018585C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000474063.5:n.500-11501G>A
ENST00000486365.5:n.1523-11501G>A
NR_026597.1:n.1523-11501G>A
NR_026597.2:n.1523-11501G>A
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