Canonical Allele Identifier: CA660437242

Gene: SHTN1

Linked Data

• dbSNP Id: rs1243673273
• gnomAD v3: 10-117068109-A-G
• gnomAD v4: 10-117068109-A-G
• MyVariant Identifiers: chr10:g.118827620A>G (hg19) ; chr10:g.117068109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117068109A>G , CM000672.2:g.117068109A>G	GRCh38
NC_000010.10:g.118827620A>G , CM000672.1:g.118827620A>G	GRCh37
NC_000010.9:g.118817610A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392901.10:c.-188-19599T>C	ENSP00000376635.4:n.-188-19599T>C
ENST00000392901.8:c.-188-19599T>C	ENSP00000376635.4:n.-188-19599T>C
NM_001258300.1:c.-188-19599T>C	NP_001245229.1:n.-188-19599T>C