Canonical Allele Identifier: CA10654429

Gene: SEMA4A

Linked Data

• ClinVar Variation Id: 368834
• ClinVar RCV Id: RCV000265075 ; RCV000357509
• dbSNP Id: rs75927380
• gnomAD v2: 1-156123310-C-T
• gnomAD v3: 1-156153519-C-T
• gnomAD v4: 1-156153519-C-T
• MyVariant Identifiers: chr1:g.156123310C>T (hg19) ; chr1:g.156153519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156153519C>T , CM000663.2:g.156153519C>T	GRCh38
NC_000001.10:g.156123310C>T , CM000663.1:g.156123310C>T	GRCh37
NC_000001.9:g.154389934C>T	NCBI36
NG_027683.1:g.8576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355014.6:c.-29-1031C>T	ENSP00000347117.2:n.-29-1031C>T
ENST00000414683.5:c.-158-2895C>T	ENSP00000399230.1:n.-158-2895C>T
ENST00000435124.5:c.-29-1031C>T	ENSP00000401391.1:n.-29-1031C>T
ENST00000485575.1:n.62-1031C>T
ENST00000633494.1:c.-30+43C>T	ENSP00000487730.1:n.-30+43C>T
NM_001193301.1:c.-29-1031C>T	NP_001180230.1:n.-29-1031C>T
XM_011509871.1:c.26-2895C>T	XP_011508173.1:n.26-2895C>T
XM_011509872.1:c.-263-12C>T	XP_011508174.1:n.-263-12C>T
XM_011509873.1:c.-254-12C>T	XP_011508175.1:n.-254-12C>T
XM_011509875.1:c.-395C>T	XP_011508177.1:n.-395C>T
XM_011509876.1:c.-158-2895C>T	XP_011508178.1:n.-158-2895C>T
XM_011509877.1:c.-158-2895C>T	XP_011508179.1:n.-158-2895C>T
XM_011509878.1:c.-158-2895C>T	XP_011508180.1:n.-158-2895C>T
XM_011509871.3:c.26-2895C>T	XP_011508173.1:n.26-2895C>T
XM_011509872.2:c.-263-12C>T	XP_011508174.1:n.-263-12C>T
XM_011509873.2:c.-254-12C>T	XP_011508175.1:n.-254-12C>T
XM_011509876.2:c.-158-2895C>T	XP_011508178.1:n.-158-2895C>T
XM_011509878.2:c.-158-2895C>T	XP_011508180.1:n.-158-2895C>T
XM_011509879.2:c.-385-2895C>T	XP_011508181.1:n.-385-2895C>T
XM_017002057.1:c.-787-12C>T	XP_016857546.1:n.-787-12C>T
NM_001193300.2:c.-254-12C>T	NP_001180229.1:n.-254-12C>T
NM_001370568.1:c.-158-2895C>T	NP_001357497.1:n.-158-2895C>T
NM_001370569.1:c.-385-2895C>T	NP_001357498.1:n.-385-2895C>T
NM_001370571.1:c.-787-12C>T	NP_001357500.1:n.-787-12C>T
NM_001193301.2:c.-29-1031C>T	NP_001180230.1:n.-29-1031C>T