Canonical Allele Identifier: CA161171348
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs981166088
gnomAD v2: 7-83036664-C-T
gnomAD v3: 7-83407348-C-T
gnomAD v4: 7-83407348-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407348C>T , CM000669.2:g.83407348C>T GRCh38
NC_000007.13:g.83036664C>T , CM000669.1:g.83036664C>T GRCh37
NC_000007.12:g.82874600C>T NCBI36
NG_021242.1:g.246816G>A
NG_021242.2:g.246816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.491-109G>A ENSP00000405052.1:n.491-109G>A
ENST00000642232.1:c.671-109G>A ENSP00000494064.1:n.671-109G>A
ENST00000643230.2:c.671-109G>A MANE Select ENSP00000496491.1:n.671-109G>A
ENST00000643441.1:n.656-109G>A
ENST00000644381.1:n.234-109G>A
ENST00000307792.7:c.671-109G>A ENSP00000303212.3:n.671-109G>A
ENST00000427262.5:c.491-109G>A ENSP00000405052.1:n.491-109G>A
NM_001178129.1:c.491-109G>A NP_001171600.1:n.491-109G>A
NM_012431.2:c.671-109G>A NP_036563.1:n.671-109G>A
XM_011516715.1:c.671-109G>A XP_011515017.1:n.671-109G>A
NM_012431.3:c.671-109G>A MANE Select NP_036563.1:n.671-109G>A
NM_001178129.2:c.491-109G>A NP_001171600.1:n.491-109G>A