Canonical Allele Identifier: CA2722864211

Gene: SHTN1

Linked Data

• dbSNP Id: rs2133600876

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117067956C>G , CM000672.2:g.117067956C>G	GRCh38
NC_000010.10:g.118827467C>G , CM000672.1:g.118827467C>G	GRCh37
NC_000010.9:g.118817457C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000392901.10:c.-188-19446G>C	ENSP00000376635.4:n.-188-19446G>C
ENST00000392901.8:c.-188-19446G>C	ENSP00000376635.4:n.-188-19446G>C
NM_001258300.1:c.-188-19446G>C	NP_001245229.1:n.-188-19446G>C