Canonical Allele Identifier: CA376835448
Gene: ATOH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1970956
ClinVar RCV Id: RCV002760534
gnomAD v4: 10-68231330-G-C
MyVariant Identifiers: chr10:g.69991087G>C (hg19) chr10:g.68231330G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68231330G>C , CM000672.2:g.68231330G>C GRCh38
NC_000010.10:g.69991087G>C , CM000672.1:g.69991087G>C GRCh37
NC_000010.9:g.69661093G>C NCBI36
NG_031934.1:g.5784C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373673.5:c.348C>G MANE Select ENSP00000362777.3:p.Phe116Leu
ENST00000373673.4:c.348C>G ENSP00000362777.3:p.Phe116Leu
NM_145178.3:c.348C>G NP_660161.1:p.Phe116Leu
NM_145178.4:c.348C>G MANE Select NP_660161.1:p.Phe116Leu
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