Canonical Allele Identifier: CA367930194

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1401068046
• gnomAD v2: 7-83036436-T-G
• gnomAD v4: 7-83407120-T-G
• MyVariant Identifiers: chr7:g.83036436T>G (hg19) ; chr7:g.83407120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407120T>G , CM000669.2:g.83407120T>G	GRCh38
NC_000007.13:g.83036436T>G , CM000669.1:g.83036436T>G	GRCh37
NC_000007.12:g.82874372T>G	NCBI36
NG_021242.1:g.247044A>C
NG_021242.2:g.247044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.610A>C	ENSP00000405052.1:p.Thr204Pro
ENST00000642232.1:c.790A>C	ENSP00000494064.1:p.Thr264Pro
ENST00000643230.2:c.790A>C MANE Select	ENSP00000496491.1:p.Thr264Pro
ENST00000643441.1:n.775A>C
ENST00000307792.7:c.790A>C	ENSP00000303212.3:p.Thr264Pro
ENST00000427262.5:c.610A>C	ENSP00000405052.1:p.Thr204Pro
NM_001178129.1:c.610A>C	NP_001171600.1:p.Thr204Pro
NM_012431.2:c.790A>C	NP_036563.1:p.Thr264Pro
XM_011516715.1:c.790A>C	XP_011515017.1:p.Thr264Pro
NM_012431.3:c.790A>C MANE Select	NP_036563.1:p.Thr264Pro
NM_001178129.2:c.610A>C	NP_001171600.1:p.Thr204Pro