Canonical Allele Identifier: CA12625186

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1215169
• ClinVar RCV Id: RCV001583995
• dbSNP Id: rs184313223
• gnomAD v2: 7-83036807-G-C
• gnomAD v3: 7-83407491-G-C
• gnomAD v4: 7-83407491-G-C
• MyVariant Identifiers: chr7:g.83036807G>C (hg19) ; chr7:g.83407491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407491G>C , CM000669.2:g.83407491G>C	GRCh38
NC_000007.13:g.83036807G>C , CM000669.1:g.83036807G>C	GRCh37
NC_000007.12:g.82874743G>C	NCBI36
NG_021242.1:g.246673C>G
NG_021242.2:g.246673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.491-252C>G	ENSP00000405052.1:n.491-252C>G
ENST00000642232.1:c.671-252C>G	ENSP00000494064.1:n.671-252C>G
ENST00000643230.2:c.671-252C>G MANE Select	ENSP00000496491.1:n.671-252C>G
ENST00000643441.1:n.656-252C>G
ENST00000644381.1:n.234-252C>G
ENST00000307792.7:c.671-252C>G	ENSP00000303212.3:n.671-252C>G
ENST00000427262.5:c.491-252C>G	ENSP00000405052.1:n.491-252C>G
NM_001178129.1:c.491-252C>G	NP_001171600.1:n.491-252C>G
NM_012431.2:c.671-252C>G	NP_036563.1:n.671-252C>G
XM_011516715.1:c.671-252C>G	XP_011515017.1:n.671-252C>G
NM_012431.3:c.671-252C>G MANE Select	NP_036563.1:n.671-252C>G
NM_001178129.2:c.491-252C>G	NP_001171600.1:n.491-252C>G