Canonical Allele Identifier: CA1154904

Gene: SEMA4A

Linked Data

• ClinVar Variation Id: 292844
• ClinVar RCV Id: RCV000262251 ; RCV000356964 ; RCV001097420 ; RCV002519397 ; RCV004021360
• dbSNP Id: rs577740555
• ExAC: 1:156124464 G / T
• gnomAD v2: 1-156124464-G-T
• gnomAD v3: 1-156154673-G-T
• gnomAD v4: 1-156154673-G-T
• MyVariant Identifiers: chr1:g.156124464G>T (hg19) ; chr1:g.156154673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156154673G>T , CM000663.2:g.156154673G>T	GRCh38
NC_000001.10:g.156124464G>T , CM000663.1:g.156124464G>T	GRCh37
NC_000001.9:g.154391088G>T	NCBI36
NG_027683.1:g.9730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368285.8:c.95G>T MANE Select	ENSP00000357268.3:p.Gly32Val
ENST00000355014.6:c.95G>T	ENSP00000347117.2:p.Gly32Val
ENST00000368282.1:c.95G>T	ENSP00000357265.1:p.Gly32Val
ENST00000368284.5:c.-159+909G>T	ENSP00000357267.1:n.-159+909G>T
ENST00000368285.7:c.95G>T	ENSP00000357268.3:p.Gly32Val
ENST00000368286.6:c.-6-14G>T	ENSP00000357269.3:n.-6-14G>T
ENST00000414683.5:c.-158-1741G>T	ENSP00000399230.1:n.-158-1741G>T
ENST00000435124.5:c.95G>T	ENSP00000401391.1:p.Gly32Val
ENST00000438830.5:c.95G>T	ENSP00000392865.1:p.Gly32Val
ENST00000485575.1:n.185G>T
ENST00000633494.1:c.95G>T	ENSP00000487730.1:p.Gly32Val
NM_001193300.1:c.95G>T	NP_001180229.1:p.Gly32Val
NM_001193301.1:c.95G>T	NP_001180230.1:p.Gly32Val
NM_001193302.1:c.-159+909G>T	NP_001180231.1:n.-159+909G>T
NM_022367.3:c.95G>T	NP_071762.2:p.Gly32Val
XM_011509871.1:c.26-1741G>T	XP_011508173.1:n.26-1741G>T
XM_011509872.1:c.95G>T	XP_011508174.1:p.Gly32Val
XM_011509873.1:c.95G>T	XP_011508175.1:p.Gly32Val
XM_011509874.1:c.-159+909G>T	XP_011508176.1:n.-159+909G>T
XM_011509875.1:c.-159+918G>T	XP_011508177.1:n.-159+918G>T
XM_011509876.1:c.-158-1741G>T	XP_011508178.1:n.-158-1741G>T
XM_011509877.1:c.-158-1741G>T	XP_011508179.1:n.-158-1741G>T
XM_011509878.1:c.-158-1741G>T	XP_011508180.1:n.-158-1741G>T
XM_011509871.3:c.26-1741G>T	XP_011508173.1:n.26-1741G>T
XM_011509872.2:c.95G>T	XP_011508174.1:p.Gly32Val
XM_011509873.2:c.95G>T	XP_011508175.1:p.Gly32Val
XM_011509874.2:c.-159+909G>T	XP_011508176.1:n.-159+909G>T
XM_011509875.3:c.-159+918G>T	XP_011508177.1:n.-159+918G>T
XM_011509876.2:c.-158-1741G>T	XP_011508178.1:n.-158-1741G>T
XM_011509878.2:c.-158-1741G>T	XP_011508180.1:n.-158-1741G>T
XM_011509879.2:c.-385-1741G>T	XP_011508181.1:n.-385-1741G>T
XM_017002056.1:c.95G>T	XP_016857545.1:p.Gly32Val
XM_017002057.1:c.-430G>T	XP_016857546.1:n.-430G>T
NM_022367.4:c.95G>T MANE Select	NP_071762.2:p.Gly32Val
NM_001193300.2:c.95G>T	NP_001180229.1:p.Gly32Val
NM_001370567.1:c.95G>T	NP_001357496.1:p.Gly32Val
NM_001370568.1:c.-158-1741G>T	NP_001357497.1:n.-158-1741G>T
NM_001370569.1:c.-385-1741G>T	NP_001357498.1:n.-385-1741G>T
NM_001370571.1:c.-430G>T	NP_001357500.1:n.-430G>T
NM_001193301.2:c.95G>T	NP_001180230.1:p.Gly32Val
NM_001193302.2:c.-159+909G>T	NP_001180231.1:n.-159+909G>T