Canonical Allele Identifier: CA201071

Gene: SEMA4A

Linked Data

• ClinVar Variation Id: 194261
• ClinVar RCV Id: RCV000174592 ; RCV000275357 ; RCV000369948 ; RCV000889429 ; RCV001097620 ; RCV003338445 ; RCV003888620
• dbSNP Id: rs2075164
• ExAC: 1:156144971 G / A
• gnomAD v2: 1-156144971-G-A
• gnomAD v3: 1-156175180-G-A
• gnomAD v4: 1-156175180-G-A
• MyVariant Identifiers: chr1:g.156144971G>A (hg19) ; chr1:g.156175180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156175180G>A , CM000663.2:g.156175180G>A	GRCh38
NC_000001.10:g.156144971G>A , CM000663.1:g.156144971G>A	GRCh37
NC_000001.9:g.154411595G>A	NCBI36
NG_027683.1:g.30237G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368285.8:c.1529G>A MANE Select	ENSP00000357268.3:p.Arg510Gln
ENST00000355014.6:c.1529G>A	ENSP00000347117.2:p.Arg510Gln
ENST00000368282.1:c.1529G>A	ENSP00000357265.1:p.Arg510Gln
ENST00000368284.5:c.1133G>A	ENSP00000357267.1:p.Arg378Gln
ENST00000368285.7:c.1529G>A	ENSP00000357268.3:p.Arg510Gln
ENST00000368286.6:c.1415G>A	ENSP00000357269.3:p.Arg472Gln
ENST00000462892.1:n.838G>A
ENST00000487358.5:n.1426G>A
NM_001193300.1:c.1529G>A	NP_001180229.1:p.Arg510Gln
NM_001193301.1:c.1529G>A	NP_001180230.1:p.Arg510Gln
NM_001193302.1:c.1133G>A	NP_001180231.1:p.Arg378Gln
NM_022367.3:c.1529G>A	NP_071762.2:p.Arg510Gln
XM_011509871.1:c.1415G>A	XP_011508173.1:p.Arg472Gln
XM_011509872.1:c.1529G>A	XP_011508174.1:p.Arg510Gln
XM_011509873.1:c.1529G>A	XP_011508175.1:p.Arg510Gln
XM_011509874.1:c.1232G>A	XP_011508176.1:p.Arg411Gln
XM_011509875.1:c.1232G>A	XP_011508177.1:p.Arg411Gln
XM_011509876.1:c.1232G>A	XP_011508178.1:p.Arg411Gln
XM_011509877.1:c.1232G>A	XP_011508179.1:p.Arg411Gln
XM_011509878.1:c.1232G>A	XP_011508180.1:p.Arg411Gln
XM_011509879.1:c.1022G>A	XP_011508181.1:p.Arg341Gln
XM_011509871.3:c.1415G>A	XP_011508173.1:p.Arg472Gln
XM_011509872.2:c.1529G>A	XP_011508174.1:p.Arg510Gln
XM_011509873.2:c.1529G>A	XP_011508175.1:p.Arg510Gln
XM_011509874.2:c.1232G>A	XP_011508176.1:p.Arg411Gln
XM_011509875.3:c.1232G>A	XP_011508177.1:p.Arg411Gln
XM_011509876.2:c.1232G>A	XP_011508178.1:p.Arg411Gln
XM_011509878.2:c.1232G>A	XP_011508180.1:p.Arg411Gln
XM_011509879.2:c.1022G>A	XP_011508181.1:p.Arg341Gln
XM_017002056.1:c.1529G>A	XP_016857545.1:p.Arg510Gln
XM_017002057.1:c.1022G>A	XP_016857546.1:p.Arg341Gln
NM_022367.4:c.1529G>A MANE Select	NP_071762.2:p.Arg510Gln
NM_001193300.2:c.1529G>A	NP_001180229.1:p.Arg510Gln
NM_001370567.1:c.1529G>A	NP_001357496.1:p.Arg510Gln
NM_001370568.1:c.1232G>A	NP_001357497.1:p.Arg411Gln
NM_001370569.1:c.1022G>A	NP_001357498.1:p.Arg341Gln
NM_001370571.1:c.1022G>A	NP_001357500.1:p.Arg341Gln
NM_001193301.2:c.1529G>A	NP_001180230.1:p.Arg510Gln
NM_001193302.2:c.1133G>A	NP_001180231.1:p.Arg378Gln