Canonical Allele Identifier: CA214957611

Gene: SHTN1

Linked Data

• dbSNP Id: rs973649976
• gnomAD v3: 10-117067858-T-A
• gnomAD v4: 10-117067858-T-A
• MyVariant Identifiers: chr10:g.118827369T>A (hg19) ; chr10:g.117067858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117067858T>A , CM000672.2:g.117067858T>A	GRCh38
NC_000010.10:g.118827369T>A , CM000672.1:g.118827369T>A	GRCh37
NC_000010.9:g.118817359T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392901.10:c.-188-19348A>T	ENSP00000376635.4:n.-188-19348A>T
ENST00000392901.8:c.-188-19348A>T	ENSP00000376635.4:n.-188-19348A>T
NM_001258300.1:c.-188-19348A>T	NP_001245229.1:n.-188-19348A>T