Canonical Allele Identifier: CA4322222

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 698850
• ClinVar RCV Id: RCV000866442 ; RCV002495261
• dbSNP Id: rs143878781
• ExAC: 7:83036461 T / G
• gnomAD v2: 7-83036461-T-G
• gnomAD v3: 7-83407145-T-G
• gnomAD v4: 7-83407145-T-G
• MyVariant Identifiers: chr7:g.83036461T>G (hg19) ; chr7:g.83407145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407145T>G , CM000669.2:g.83407145T>G	GRCh38
NC_000007.13:g.83036461T>G , CM000669.1:g.83036461T>G	GRCh37
NC_000007.12:g.82874397T>G	NCBI36
NG_021242.1:g.247019A>C
NG_021242.2:g.247019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.585A>C	ENSP00000405052.1:p.Ala195=
ENST00000642232.1:c.765A>C	ENSP00000494064.1:p.Ala255=
ENST00000643230.2:c.765A>C MANE Select	ENSP00000496491.1:p.Ala255=
ENST00000643441.1:n.750A>C
ENST00000644381.1:n.328A>C
ENST00000307792.7:c.765A>C	ENSP00000303212.3:p.Ala255=
ENST00000427262.5:c.585A>C	ENSP00000405052.1:p.Ala195=
NM_001178129.1:c.585A>C	NP_001171600.1:p.Ala195=
NM_012431.2:c.765A>C	NP_036563.1:p.Ala255=
XM_011516715.1:c.765A>C	XP_011515017.1:p.Ala255=
NM_012431.3:c.765A>C MANE Select	NP_036563.1:p.Ala255=
NM_001178129.2:c.585A>C	NP_001171600.1:p.Ala195=