Canonical Allele Identifier: CA116162

Gene: SEMA4A

Linked Data

• ClinVar Variation Id: 3361
• ClinVar RCV Id: RCV000003527 ; RCV000003526
• dbSNP Id: rs267607034
• MyVariant Identifiers: chr1:g.156132800T>G (hg19) ; chr1:g.156163009T>G (hg38)
• PubMed: PMID:16199541

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156163009T>G , CM000663.2:g.156163009T>G	GRCh38
NC_000001.10:g.156132800T>G , CM000663.1:g.156132800T>G	GRCh37
NC_000001.9:g.154399424T>G	NCBI36
NG_027683.1:g.18066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368285.8:c.1049T>G MANE Select	ENSP00000357268.3:p.Phe350Cys
ENST00000355014.6:c.1049T>G	ENSP00000347117.2:p.Phe350Cys
ENST00000368282.1:c.1049T>G	ENSP00000357265.1:p.Phe350Cys
ENST00000368284.5:c.653T>G	ENSP00000357267.1:p.Phe218Cys
ENST00000368285.7:c.1049T>G	ENSP00000357268.3:p.Phe350Cys
ENST00000368286.6:c.935T>G	ENSP00000357269.3:p.Phe312Cys
ENST00000462892.1:n.358T>G
ENST00000469065.1:n.319T>G
ENST00000487358.5:n.946T>G
NM_001193300.1:c.1049T>G	NP_001180229.1:p.Phe350Cys
NM_001193301.1:c.1049T>G	NP_001180230.1:p.Phe350Cys
NM_001193302.1:c.653T>G	NP_001180231.1:p.Phe218Cys
NM_022367.3:c.1049T>G	NP_071762.2:p.Phe350Cys
XM_011509871.1:c.935T>G	XP_011508173.1:p.Phe312Cys
XM_011509872.1:c.1049T>G	XP_011508174.1:p.Phe350Cys
XM_011509873.1:c.1049T>G	XP_011508175.1:p.Phe350Cys
XM_011509874.1:c.752T>G	XP_011508176.1:p.Phe251Cys
XM_011509875.1:c.752T>G	XP_011508177.1:p.Phe251Cys
XM_011509876.1:c.752T>G	XP_011508178.1:p.Phe251Cys
XM_011509877.1:c.752T>G	XP_011508179.1:p.Phe251Cys
XM_011509878.1:c.752T>G	XP_011508180.1:p.Phe251Cys
XM_011509879.1:c.542T>G	XP_011508181.1:p.Phe181Cys
XM_011509871.3:c.935T>G	XP_011508173.1:p.Phe312Cys
XM_011509872.2:c.1049T>G	XP_011508174.1:p.Phe350Cys
XM_011509873.2:c.1049T>G	XP_011508175.1:p.Phe350Cys
XM_011509874.2:c.752T>G	XP_011508176.1:p.Phe251Cys
XM_011509875.3:c.752T>G	XP_011508177.1:p.Phe251Cys
XM_011509876.2:c.752T>G	XP_011508178.1:p.Phe251Cys
XM_011509878.2:c.752T>G	XP_011508180.1:p.Phe251Cys
XM_011509879.2:c.542T>G	XP_011508181.1:p.Phe181Cys
XM_017002056.1:c.1049T>G	XP_016857545.1:p.Phe350Cys
XM_017002057.1:c.542T>G	XP_016857546.1:p.Phe181Cys
NM_022367.4:c.1049T>G MANE Select	NP_071762.2:p.Phe350Cys
NM_001193300.2:c.1049T>G	NP_001180229.1:p.Phe350Cys
NM_001370567.1:c.1049T>G	NP_001357496.1:p.Phe350Cys
NM_001370568.1:c.752T>G	NP_001357497.1:p.Phe251Cys
NM_001370569.1:c.542T>G	NP_001357498.1:p.Phe181Cys
NM_001370571.1:c.542T>G	NP_001357500.1:p.Phe181Cys
NM_001193301.2:c.1049T>G	NP_001180230.1:p.Phe350Cys
NM_001193302.2:c.653T>G	NP_001180231.1:p.Phe218Cys