Canonical Allele Identifier: CA4322250

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1231312
• ClinVar RCV Id: RCV001609968 ; RCV001807445
• dbSNP Id: rs2709941
• ExAC: 7:83036602 T / A
• gnomAD v2: 7-83036602-T-A
• gnomAD v3: 7-83407286-T-A
• gnomAD v4: 7-83407286-T-A
• MyVariant Identifiers: chr7:g.83036602T>A (hg19) ; chr7:g.83407286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407286T>A , CM000669.2:g.83407286T>A	GRCh38
NC_000007.13:g.83036602T>A , CM000669.1:g.83036602T>A	GRCh37
NC_000007.12:g.82874538T>A	NCBI36
NG_021242.1:g.246878A>T
NG_021242.2:g.246878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.491-47A>T	ENSP00000405052.1:n.491-47A>T
ENST00000642232.1:c.671-47A>T	ENSP00000494064.1:n.671-47A>T
ENST00000643230.2:c.671-47A>T MANE Select	ENSP00000496491.1:n.671-47A>T
ENST00000643441.1:n.656-47A>T
ENST00000644381.1:n.234-47A>T
ENST00000307792.7:c.671-47A>T	ENSP00000303212.3:n.671-47A>T
ENST00000427262.5:c.491-47A>T	ENSP00000405052.1:n.491-47A>T
NM_001178129.1:c.491-47A>T	NP_001171600.1:n.491-47A>T
NM_012431.2:c.671-47A>T	NP_036563.1:n.671-47A>T
XM_011516715.1:c.671-47A>T	XP_011515017.1:n.671-47A>T
NM_012431.3:c.671-47A>T MANE Select	NP_036563.1:n.671-47A>T
NM_001178129.2:c.491-47A>T	NP_001171600.1:n.491-47A>T