Canonical Allele Identifier: CA932947993

Gene: SHTN1

Linked Data

• dbSNP Id: rs1747588935
• gnomAD v3: 10-117068084-A-C
• gnomAD v4: 10-117068084-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117068084A>C , CM000672.2:g.117068084A>C	GRCh38
NC_000010.10:g.118827595A>C , CM000672.1:g.118827595A>C	GRCh37
NC_000010.9:g.118817585A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392901.10:c.-188-19574T>G	ENSP00000376635.4:n.-188-19574T>G
ENST00000392901.8:c.-188-19574T>G	ENSP00000376635.4:n.-188-19574T>G
NM_001258300.1:c.-188-19574T>G	NP_001245229.1:n.-188-19574T>G