Canonical Allele Identifier: CA660437239

Gene: SHTN1

Linked Data

• dbSNP Id: rs1400816029
• gnomAD v3: 10-117068079-C-T
• gnomAD v4: 10-117068079-C-T
• MyVariant Identifiers: chr10:g.118827590C>T (hg19) ; chr10:g.117068079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117068079C>T , CM000672.2:g.117068079C>T	GRCh38
NC_000010.10:g.118827590C>T , CM000672.1:g.118827590C>T	GRCh37
NC_000010.9:g.118817580C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392901.10:c.-188-19569G>A	ENSP00000376635.4:n.-188-19569G>A
ENST00000392901.8:c.-188-19569G>A	ENSP00000376635.4:n.-188-19569G>A
NM_001258300.1:c.-188-19569G>A	NP_001245229.1:n.-188-19569G>A