Canonical Allele Identifier: CA367930470

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 2150126
• ClinVar RCV Id: RCV003067414
• dbSNP Id: rs1484674914
• gnomAD v2: 7-83036556-C-G
• gnomAD v4: 7-83407240-C-G
• MyVariant Identifiers: chr7:g.83036556C>G (hg19) ; chr7:g.83407240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407240C>G , CM000669.2:g.83407240C>G	GRCh38
NC_000007.13:g.83036556C>G , CM000669.1:g.83036556C>G	GRCh37
NC_000007.12:g.82874492C>G	NCBI36
NG_021242.1:g.246924G>C
NG_021242.2:g.246924G>C

Transcript Alleles

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