Canonical Allele Identifier: CA367949045

Gene: SEMA3A

Linked Data

• gnomAD v4: 7-83981475-G-T
• COSMIC: COSM6212357
• MyVariant Identifiers: chr7:g.83610791G>T (hg19) ; chr7:g.83981475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83981475G>T , CM000669.2:g.83981475G>T	GRCh38
NC_000007.13:g.83610791G>T , CM000669.1:g.83610791G>T	GRCh37
NC_000007.12:g.83448727G>T	NCBI36
NG_011489.1:g.218427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265362.9:c.1498C>A MANE Select	ENSP00000265362.3:p.Gln500Lys
ENST00000265362.8:c.1498C>A	ENSP00000265362.3:p.Gln500Lys
ENST00000436949.5:c.1498C>A	ENSP00000415260.1:p.Gln500Lys
NM_006080.2:c.1498C>A	NP_006071.1:p.Gln500Lys
XM_005250110.2:c.1498C>A	XP_005250167.1:p.Gln500Lys
XM_005250111.3:c.1498C>A	XP_005250168.1:p.Gln500Lys
XM_006715839.2:c.1498C>A	XP_006715902.1:p.Gln500Lys
XM_011515734.1:c.1498C>A	XP_011514036.1:p.Gln500Lys
XM_011515735.1:c.1498C>A	XP_011514037.1:p.Gln500Lys
XM_005250110.3:c.1498C>A	XP_005250167.1:p.Gln500Lys
XM_005250111.4:c.1498C>A	XP_005250168.1:p.Gln500Lys
XM_006715839.3:c.1498C>A	XP_006715902.1:p.Gln500Lys
XM_011515734.3:c.1498C>A	XP_011514036.1:p.Gln500Lys
XM_017011673.1:c.1498C>A	XP_016867162.1:p.Gln500Lys
XM_024446633.1:c.1498C>A	XP_024302401.1:p.Gln500Lys
NM_006080.3:c.1498C>A MANE Select	NP_006071.1:p.Gln500Lys