Canonical Allele Identifier: CA367930370
Gene: SEMA3E HGNC NCBI

Linked Data

ClinVar Variation Id: 529114
ClinVar RCV Id: RCV000634414
dbSNP Id: rs1554320716
gnomAD v4: 7-83407197-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407197T>C , CM000669.2:g.83407197T>C GRCh38
NC_000007.13:g.83036513T>C , CM000669.1:g.83036513T>C GRCh37
NC_000007.12:g.82874449T>C NCBI36
NG_021242.1:g.246967A>G
NG_021242.2:g.246967A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000427262.6:c.533A>G ENSP00000405052.1:p.Asp178Gly
ENST00000642232.1:c.713A>G ENSP00000494064.1:p.Asp238Gly
ENST00000643230.2:c.713A>G MANE Select ENSP00000496491.1:p.Asp238Gly
ENST00000643441.1:n.698A>G
ENST00000644381.1:n.276A>G
ENST00000307792.7:c.713A>G ENSP00000303212.3:p.Asp238Gly
ENST00000427262.5:c.533A>G ENSP00000405052.1:p.Asp178Gly
NM_001178129.1:c.533A>G NP_001171600.1:p.Asp178Gly
NM_012431.2:c.713A>G NP_036563.1:p.Asp238Gly
XM_011516715.1:c.713A>G XP_011515017.1:p.Asp238Gly
NM_012431.3:c.713A>G MANE Select NP_036563.1:p.Asp238Gly
NM_001178129.2:c.533A>G NP_001171600.1:p.Asp178Gly