Canonical Allele Identifier: CA596245420
Gene: SHTN1 HGNC NCBI

Linked Data

dbSNP Id: rs1420643278
gnomAD v2: 10-118827630-C-T
gnomAD v3: 10-117068119-C-T
gnomAD v4: 10-117068119-C-T
MyVariant Identifiers: chr10:g.118827630C>T (hg19) chr10:g.117068119C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117068119C>T , CM000672.2:g.117068119C>T GRCh38
NC_000010.10:g.118827630C>T , CM000672.1:g.118827630C>T GRCh37
NC_000010.9:g.118817620C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000392901.10:c.-188-19609G>A ENSP00000376635.4:n.-188-19609G>A
ENST00000392901.8:c.-188-19609G>A ENSP00000376635.4:n.-188-19609G>A
NM_001258300.1:c.-188-19609G>A NP_001245229.1:n.-188-19609G>A
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