Canonical Allele Identifier: CA1099028
Gene: TCHH HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152112226G>A
GRCh37 chr1:g.152084702G>A
gnomAD v2:
1:152084702 G / A
gnomAD v3:
1:152112226 G / A
gnomAD v4:
chr1-152112226-G-A
Joint Max Group AF 0.00042779 (NFE)
Genomes Max Group AF 0.00066642 (NFE)
Exomes Max Group AF 0.0004074 (NFE)
ClinVar RCV:
RCV000415562
ClinVar Variation:
374835
dbSNP:
201930497
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152112226G>A , CM000663.2:g.152112226G>A GRCh38
NC_000001.10:g.152084702G>A , CM000663.1:g.152084702G>A GRCh37
NC_000001.9:g.150351326G>A NCBI36
NG_052960.1:g.8229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614923.2:c.991C>T MANE Select ENSP00000480484.1:p.Gln331Ter
ENST00000368804.5:c.991C>T ENSP00000357794.1:p.Gln331Ter
ENST00000614923.1:c.991C>T ENSP00000480484.1:p.Gln331Ter
NM_007113.3:c.991C>T NP_009044.2:p.Gln331Ter
NM_007113.4:c.991C>T MANE Select NP_009044.2:p.Gln331Ter
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