Canonical Allele Identifier: CA367930333

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83407182-T-C
• MyVariant Identifiers: chr7:g.83036498T>C (hg19) ; chr7:g.83407182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407182T>C , CM000669.2:g.83407182T>C	GRCh38
NC_000007.13:g.83036498T>C , CM000669.1:g.83036498T>C	GRCh37
NC_000007.12:g.82874434T>C	NCBI36
NG_021242.1:g.246982A>G
NG_021242.2:g.246982A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.548A>G	ENSP00000405052.1:p.Lys183Arg
ENST00000642232.1:c.728A>G	ENSP00000494064.1:p.Lys243Arg
ENST00000643230.2:c.728A>G MANE Select	ENSP00000496491.1:p.Lys243Arg
ENST00000643441.1:n.713A>G
ENST00000644381.1:n.291A>G
ENST00000307792.7:c.728A>G	ENSP00000303212.3:p.Lys243Arg
ENST00000427262.5:c.548A>G	ENSP00000405052.1:p.Lys183Arg
NM_001178129.1:c.548A>G	NP_001171600.1:p.Lys183Arg
NM_012431.2:c.728A>G	NP_036563.1:p.Lys243Arg
XM_011516715.1:c.728A>G	XP_011515017.1:p.Lys243Arg
NM_012431.3:c.728A>G MANE Select	NP_036563.1:p.Lys243Arg
NM_001178129.2:c.548A>G	NP_001171600.1:p.Lys183Arg