Canonical Allele Identifier: CA12694001
Gene: COMETT HGNC NCBI
COSMIC:
COSN6593592 (not active)
MyVariant.info:
GRCh38 chr7:g.116576975T>C
GRCh37 chr7:g.116217029T>C
gnomAD v2:
7:116217029 T / C
gnomAD v3:
7:116576975 T / C
gnomAD v4:
chr7-116576975-T-C
Joint Max Group AF 0.92347134 (EAS)
Genomes Max Group AF 0.92347134 (EAS)
dbSNP:
7795356
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116576975T>C , CM000669.2:g.116576975T>C GRCh38
NC_000007.13:g.116217029T>C , CM000669.1:g.116217029T>C GRCh37
NC_000007.12:g.116004265T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_120506.1:n.367-3231A>G
NR_120506.2:n.204-3231A>G
NR_165032.1:n.391-5745A>G
NR_165033.1:n.391-3231A>G
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