Canonical Allele Identifier: CA161498612
Gene: SEMA3C HGNC NCBI

Linked Data

dbSNP Id: rs1013266585
gnomAD v2: 7-80532050-C-G
gnomAD v3: 7-80902734-C-G
gnomAD v4: 7-80902734-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.80902734C>G , CM000669.2:g.80902734C>G GRCh38
NC_000007.13:g.80532050C>G , CM000669.1:g.80532050C>G GRCh37
NC_000007.12:g.80369986C>G NCBI36
NG_054744.1:g.24646G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265361.8:c.103+13945G>C MANE Select ENSP00000265361.3:n.103+13945G>C
ENST00000265361.7:c.103+13945G>C ENSP00000265361.3:n.103+13945G>C
ENST00000411788.5:c.191+3095G>C ENSP00000395398.1:n.191+3095G>C
ENST00000419255.6:c.103+13945G>C ENSP00000411193.2:n.103+13945G>C
ENST00000427167.5:c.191+3095G>C ENSP00000399891.1:n.191+3095G>C
ENST00000458729.5:c.103+13945G>C ENSP00000393825.1:n.103+13945G>C
ENST00000487621.5:n.496+13945G>C
NM_006379.3:c.103+13945G>C NP_006370.1:n.103+13945G>C
XM_005250113.1:c.-72+3095G>C XP_005250170.1:n.-72+3095G>C
NM_001350120.1:c.157+13945G>C NP_001337049.1:n.157+13945G>C
NM_001350121.1:c.-72+3095G>C NP_001337050.1:n.-72+3095G>C
NM_006379.4:c.103+13945G>C NP_006370.1:n.103+13945G>C
NM_006379.5:c.103+13945G>C MANE Select NP_006370.1:n.103+13945G>C
NM_001350120.2:c.157+13945G>C NP_001337049.1:n.157+13945G>C
NM_001350121.2:c.-72+3095G>C NP_001337050.1:n.-72+3095G>C