Canonical Allele Identifier: CA220340410
Gene: THEM7P HGNC NCBI

Linked Data

dbSNP Id: rs566159502
gnomAD v2: 11-32364204-T-C
gnomAD v3: 11-32342658-T-C
gnomAD v4: 11-32342658-T-C
MyVariant Identifiers: chr11:g.32364204T>C (hg19) chr11:g.32342658T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32342658T>C , CM000673.2:g.32342658T>C GRCh38
NC_000011.9:g.32364204T>C , CM000673.1:g.32364204T>C GRCh37
NC_000011.8:g.32320780T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000525689.2:n.122+630A>G
ENST00000525689.1:n.122+630A>G
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