Canonical Allele Identifier: CA1103854009
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs1788349915
gnomAD v3: 7-83407319-A-C
gnomAD v4: 7-83407319-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407319A>C , CM000669.2:g.83407319A>C GRCh38
NC_000007.13:g.83036635A>C , CM000669.1:g.83036635A>C GRCh37
NC_000007.12:g.82874571A>C NCBI36
NG_021242.1:g.246845T>G
NG_021242.2:g.246845T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.491-80T>G ENSP00000405052.1:n.491-80T>G
ENST00000642232.1:c.671-80T>G ENSP00000494064.1:n.671-80T>G
ENST00000643230.2:c.671-80T>G MANE Select ENSP00000496491.1:n.671-80T>G
ENST00000643441.1:n.656-80T>G
ENST00000644381.1:n.234-80T>G
ENST00000307792.7:c.671-80T>G ENSP00000303212.3:n.671-80T>G
ENST00000427262.5:c.491-80T>G ENSP00000405052.1:n.491-80T>G
NM_001178129.1:c.491-80T>G NP_001171600.1:n.491-80T>G
NM_012431.2:c.671-80T>G NP_036563.1:n.671-80T>G
XM_011516715.1:c.671-80T>G XP_011515017.1:n.671-80T>G
NM_012431.3:c.671-80T>G MANE Select NP_036563.1:n.671-80T>G
NM_001178129.2:c.491-80T>G NP_001171600.1:n.491-80T>G