Canonical Allele Identifier: CA214957625
Gene: SHTN1 HGNC NCBI

Linked Data

dbSNP Id: rs146554463
gnomAD v2: 10-118827470-T-C
gnomAD v3: 10-117067959-T-C
gnomAD v4: 10-117067959-T-C
MyVariant Identifiers: chr10:g.118827470T>C (hg19) chr10:g.117067959T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117067959T>C , CM000672.2:g.117067959T>C GRCh38
NC_000010.10:g.118827470T>C , CM000672.1:g.118827470T>C GRCh37
NC_000010.9:g.118817460T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000392901.10:c.-188-19449A>G ENSP00000376635.4:n.-188-19449A>G
ENST00000392901.8:c.-188-19449A>G ENSP00000376635.4:n.-188-19449A>G
NM_001258300.1:c.-188-19449A>G NP_001245229.1:n.-188-19449A>G
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