Canonical Allele Identifier: CA4322234

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 2226237
• ClinVar RCV Id: RCV002697043 ; RCV003603133
• dbSNP Id: rs774036972
• ExAC: 7:83036519 T / C
• gnomAD v2: 7-83036519-T-C
• gnomAD v3: 7-83407203-T-C
• gnomAD v4: 7-83407203-T-C
• MyVariant Identifiers: chr7:g.83036519T>C (hg19) ; chr7:g.83407203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407203T>C , CM000669.2:g.83407203T>C	GRCh38
NC_000007.13:g.83036519T>C , CM000669.1:g.83036519T>C	GRCh37
NC_000007.12:g.82874455T>C	NCBI36
NG_021242.1:g.246961A>G
NG_021242.2:g.246961A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.527A>G	ENSP00000405052.1:p.Asn176Ser
ENST00000642232.1:c.707A>G	ENSP00000494064.1:p.Asn236Ser
ENST00000643230.2:c.707A>G MANE Select	ENSP00000496491.1:p.Asn236Ser
ENST00000643441.1:n.692A>G
ENST00000644381.1:n.270A>G
ENST00000307792.7:c.707A>G	ENSP00000303212.3:p.Asn236Ser
ENST00000427262.5:c.527A>G	ENSP00000405052.1:p.Asn176Ser
NM_001178129.1:c.527A>G	NP_001171600.1:p.Asn176Ser
NM_012431.2:c.707A>G	NP_036563.1:p.Asn236Ser
XM_011516715.1:c.707A>G	XP_011515017.1:p.Asn236Ser
NM_012431.3:c.707A>G MANE Select	NP_036563.1:p.Asn236Ser
NM_001178129.2:c.527A>G	NP_001171600.1:p.Asn176Ser