Canonical Allele Identifier: CA575901934

Gene: SEMA3C

Linked Data

• dbSNP Id: rs1416640185
• gnomAD v2: 7-80532248-T-A
• MyVariant Identifiers: chr7:g.80532248T>A (hg19) ; chr7:g.80902932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.80902932T>A , CM000669.2:g.80902932T>A	GRCh38
NC_000007.13:g.80532248T>A , CM000669.1:g.80532248T>A	GRCh37
NC_000007.12:g.80370184T>A	NCBI36
NG_054744.1:g.24448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265361.8:c.103+13747A>T MANE Select	ENSP00000265361.3:n.103+13747A>T
ENST00000265361.7:c.103+13747A>T	ENSP00000265361.3:n.103+13747A>T
ENST00000411788.5:c.191+2897A>T	ENSP00000395398.1:n.191+2897A>T
ENST00000419255.6:c.103+13747A>T	ENSP00000411193.2:n.103+13747A>T
ENST00000427167.5:c.191+2897A>T	ENSP00000399891.1:n.191+2897A>T
ENST00000458729.5:c.103+13747A>T	ENSP00000393825.1:n.103+13747A>T
ENST00000487621.5:n.496+13747A>T
NM_006379.3:c.103+13747A>T	NP_006370.1:n.103+13747A>T
XM_005250113.1:c.-72+2897A>T	XP_005250170.1:n.-72+2897A>T
NM_001350120.1:c.157+13747A>T	NP_001337049.1:n.157+13747A>T
NM_001350121.1:c.-72+2897A>T	NP_001337050.1:n.-72+2897A>T
NM_006379.4:c.103+13747A>T	NP_006370.1:n.103+13747A>T
NM_006379.5:c.103+13747A>T MANE Select	NP_006370.1:n.103+13747A>T
NM_001350120.2:c.157+13747A>T	NP_001337049.1:n.157+13747A>T
NM_001350121.2:c.-72+2897A>T	NP_001337050.1:n.-72+2897A>T