Canonical Allele Identifier: CA596245305
Gene: SHTN1 HGNC NCBI

Linked Data

dbSNP Id: rs1339697373
gnomAD v2: 10-118827465-A-G
gnomAD v3: 10-117067954-A-G
gnomAD v4: 10-117067954-A-G
MyVariant Identifiers: chr10:g.118827465A>G (hg19) chr10:g.117067954A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117067954A>G , CM000672.2:g.117067954A>G GRCh38
NC_000010.10:g.118827465A>G , CM000672.1:g.118827465A>G GRCh37
NC_000010.9:g.118817455A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000392901.10:c.-188-19444T>C ENSP00000376635.4:n.-188-19444T>C
ENST00000392901.8:c.-188-19444T>C ENSP00000376635.4:n.-188-19444T>C
NM_001258300.1:c.-188-19444T>C NP_001245229.1:n.-188-19444T>C
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