Canonical Allele Identifier: CA4323209
Gene: SEMA3D HGNC NCBI

Linked Data

ClinVar Variation Id: 3060976
ClinVar RCV Id: RCV003982488
dbSNP Id: rs7800072
ExAC: 7:84628989 T / G
gnomAD v2: 7-84628989-T-G
gnomAD v3: 7-84999673-T-G
gnomAD v4: 7-84999673-T-G
MyVariant Identifiers: chr7:g.84628989T>G (hg19) chr7:g.84999673T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.84999673T>G , CM000669.2:g.84999673T>G GRCh38
NC_000007.13:g.84628989T>G , CM000669.1:g.84628989T>G GRCh37
NC_000007.12:g.84466925T>G NCBI36
NG_051329.1:g.192183A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284136.11:c.2101A>C MANE Select ENSP00000284136.6:p.Lys701Gln
ENST00000284136.10:c.2101A>C ENSP00000284136.6:p.Lys701Gln
ENST00000484038.1:n.1227A>C
NM_152754.2:c.2101A>C NP_689967.2:p.Lys701Gln
XM_011515960.1:c.2101A>C XP_011514262.1:p.Lys701Gln
XM_011515961.1:c.1519A>C XP_011514263.1:p.Lys507Gln
XM_011515962.1:c.1018A>C XP_011514264.1:p.Lys340Gln
XM_011515961.2:c.1519A>C XP_011514263.1:p.Lys507Gln
XM_017011873.1:c.2101A>C XP_016867362.1:p.Lys701Gln
NM_001384900.1:c.2101A>C MANE Select NP_001371829.1:p.Lys701Gln
NM_001384901.1:c.2101A>C NP_001371830.1:p.Lys701Gln
NM_001384902.1:c.2101A>C NP_001371831.1:p.Lys701Gln
NM_001384903.1:c.2101A>C NP_001371832.1:p.Lys701Gln
NM_152754.3:c.2101A>C NP_689967.2:p.Lys701Gln
Search 100 bp 5'
Search 100 bp 3'