Canonical Allele Identifier: CA4321968

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 416919
• ClinVar RCV Id: RCV000459374 ; RCV000992768
• dbSNP Id: rs61636768
• ExAC: 7:83021972 A / G
• gnomAD v2: 7-83021972-A-G
• gnomAD v3: 7-83392656-A-G
• gnomAD v4: 7-83392656-A-G
• MyVariant Identifiers: chr7:g.83021972A>G (hg19) ; chr7:g.83392656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392656A>G , CM000669.2:g.83392656A>G	GRCh38
NC_000007.13:g.83021972A>G , CM000669.1:g.83021972A>G	GRCh37
NC_000007.12:g.82859908A>G	NCBI36
NG_021242.1:g.261508T>C
NG_021242.2:g.261508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1386T>C	ENSP00000405052.1:p.Tyr462=
ENST00000642232.1:c.1566T>C	ENSP00000494064.1:p.Tyr522=
ENST00000643230.2:c.1566T>C MANE Select	ENSP00000496491.1:p.Tyr522=
ENST00000643441.1:n.1551T>C
ENST00000307792.7:c.1566T>C	ENSP00000303212.3:p.Tyr522=
ENST00000427262.5:c.1386T>C	ENSP00000405052.1:p.Tyr462=
NM_001178129.1:c.1386T>C	NP_001171600.1:p.Tyr462=
NM_012431.2:c.1566T>C	NP_036563.1:p.Tyr522=
XM_011516715.1:c.1566T>C	XP_011515017.1:p.Tyr522=
NM_012431.3:c.1566T>C MANE Select	NP_036563.1:p.Tyr522=
NM_001178129.2:c.1386T>C	NP_001171600.1:p.Tyr462=