Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA4322792

Gene: SEMA3A HGNC NCBI

Linked Data

ClinVar Variation Id: 1289263

ClinVar RCV Id: RCV001713866

dbSNP Id: rs7804122

ExAC: 7:83634713 A / G

gnomAD v2: 7-83634713-A-G

gnomAD v3: 7-84005397-A-G

gnomAD v4: 7-84005397-A-G

MyVariant Identifiers: chr7:g.83634713A>G (hg19) chr7:g.84005397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.84005397A>G , CM000669.2:g.84005397A>G	GRCh38
NC_000007.13:g.83634713A>G , CM000669.1:g.83634713A>G	GRCh37
NC_000007.12:g.83472649A>G	NCBI36
NG_011489.1:g.194505T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265362.9:c.1302T>C MANE Select	ENSP00000265362.3:p.Ile434=
ENST00000265362.8:c.1302T>C	ENSP00000265362.3:p.Ile434=
ENST00000436949.5:c.1302T>C	ENSP00000415260.1:p.Ile434=
NM_006080.2:c.1302T>C	NP_006071.1:p.Ile434=
XM_005250110.2:c.1302T>C	XP_005250167.1:p.Ile434=
XM_005250111.3:c.1302T>C	XP_005250168.1:p.Ile434=
XM_006715839.2:c.1302T>C	XP_006715902.1:p.Ile434=
XM_011515734.1:c.1302T>C	XP_011514036.1:p.Ile434=
XM_011515735.1:c.1302T>C	XP_011514037.1:p.Ile434=
XM_005250110.3:c.1302T>C	XP_005250167.1:p.Ile434=
XM_005250111.4:c.1302T>C	XP_005250168.1:p.Ile434=
XM_006715839.3:c.1302T>C	XP_006715902.1:p.Ile434=
XM_011515734.3:c.1302T>C	XP_011514036.1:p.Ile434=
XM_017011673.1:c.1302T>C	XP_016867162.1:p.Ile434=
XM_024446633.1:c.1302T>C	XP_024302401.1:p.Ile434=
NM_006080.3:c.1302T>C MANE Select	NP_006071.1:p.Ile434=