Canonical Allele Identifier: CA932947983
Gene: SHTN1 HGNC NCBI

Linked Data

dbSNP Id: rs1853028796
gnomAD v3: 10-117068068-G-A
gnomAD v4: 10-117068068-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117068068G>A , CM000672.2:g.117068068G>A GRCh38
NC_000010.10:g.118827579G>A , CM000672.1:g.118827579G>A GRCh37
NC_000010.9:g.118817569G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000392901.10:c.-188-19558C>T ENSP00000376635.4:n.-188-19558C>T
ENST00000392901.8:c.-188-19558C>T ENSP00000376635.4:n.-188-19558C>T
NM_001258300.1:c.-188-19558C>T NP_001245229.1:n.-188-19558C>T
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