Canonical Allele Identifier: CA4322218
Gene: SEMA3E HGNC NCBI

Linked Data

ClinVar Variation Id: 1514639
ClinVar RCV Id: RCV002029445 RCV002486717 RCV004046816
dbSNP Id: rs773917768
ExAC: 7:83036445 C / T
gnomAD v2: 7-83036445-C-T
gnomAD v3: 7-83407129-C-T
gnomAD v4: 7-83407129-C-T
COSMIC: COSM258856
MyVariant Identifiers: chr7:g.83036445C>T (hg19) chr7:g.83407129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407129C>T , CM000669.2:g.83407129C>T GRCh38
NC_000007.13:g.83036445C>T , CM000669.1:g.83036445C>T GRCh37
NC_000007.12:g.82874381C>T NCBI36
NG_021242.1:g.247035G>A
NG_021242.2:g.247035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.601G>A ENSP00000405052.1:p.Ala201Thr
ENST00000642232.1:c.781G>A ENSP00000494064.1:p.Ala261Thr
ENST00000643230.2:c.781G>A MANE Select ENSP00000496491.1:p.Ala261Thr
ENST00000643441.1:n.766G>A
ENST00000307792.7:c.781G>A ENSP00000303212.3:p.Ala261Thr
ENST00000427262.5:c.601G>A ENSP00000405052.1:p.Ala201Thr
NM_001178129.1:c.601G>A NP_001171600.1:p.Ala201Thr
NM_012431.2:c.781G>A NP_036563.1:p.Ala261Thr
XM_011516715.1:c.781G>A XP_011515017.1:p.Ala261Thr
NM_012431.3:c.781G>A MANE Select NP_036563.1:p.Ala261Thr
NM_001178129.2:c.601G>A NP_001171600.1:p.Ala201Thr
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