Canonical Allele Identifier: CA174447
Gene: TRPC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 161611
ClinVar RCV Id: RCV000149147
dbSNP Id: rs193920981

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37746311G>A , CM000675.2:g.37746311G>A GRCh38
NC_000013.10:g.38320448G>A , CM000675.1:g.38320448G>A GRCh37
NC_000013.9:g.37218448G>A NCBI36
NG_029849.1:g.128492C>T
NG_029849.2:g.129115C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379705.8:c.523C>T MANE Select ENSP00000369027.4:p.Arg175Cys
ENST00000338947.9:c.378+36645C>T ENSP00000342580.5:n.378+36645C>T
ENST00000355779.6:c.523C>T ENSP00000348025.2:p.Arg175Cys
ENST00000358477.6:c.523C>T ENSP00000351264.2:p.Arg175Cys
ENST00000379673.2:c.523C>T ENSP00000368995.2:p.Arg175Cys
ENST00000379679.5:c.378+36645C>T ENSP00000369001.1:n.378+36645C>T
ENST00000379705.7:c.523C>T ENSP00000369027.3:p.Arg175Cys
ENST00000426868.6:c.523C>T ENSP00000410133.2:p.Arg175Cys
ENST00000488717.5:c.523C>T ENSP00000435969.1:p.Arg175Cys
ENST00000625583.2:c.523C>T ENSP00000486109.1:p.Arg175Cys
NM_001135955.1:c.523C>T NP_001129427.1:p.Arg175Cys
NM_001135956.1:c.523C>T NP_001129428.1:p.Arg175Cys
NM_001135957.1:c.523C>T NP_001129429.1:p.Arg175Cys
NM_001135958.1:c.378+36645C>T NP_001129430.1:n.378+36645C>T
NM_003306.1:c.523C>T NP_003297.1:p.Arg175Cys
NM_016179.2:c.523C>T NP_057263.1:p.Arg175Cys
NM_001135955.2:c.523C>T NP_001129427.1:p.Arg175Cys
NM_001135956.2:c.523C>T NP_001129428.1:p.Arg175Cys
NM_001135957.2:c.523C>T NP_001129429.1:p.Arg175Cys
NM_001135958.2:c.378+36645C>T NP_001129430.1:n.378+36645C>T
NM_001354799.1:c.-727C>T NP_001341728.1:n.-727C>T
NM_001354806.1:c.-401C>T NP_001341735.1:n.-401C>T
NM_003306.2:c.523C>T NP_003297.1:p.Arg175Cys
NM_016179.3:c.523C>T NP_057263.1:p.Arg175Cys
NM_001135955.3:c.523C>T NP_001129427.1:p.Arg175Cys
NM_001135956.3:c.523C>T NP_001129428.1:p.Arg175Cys
NM_001135957.3:c.523C>T NP_001129429.1:p.Arg175Cys
NM_001135958.3:c.378+36645C>T NP_001129430.1:n.378+36645C>T
NM_001354799.2:c.-727C>T NP_001341728.1:n.-727C>T
NM_001354806.2:c.-401C>T NP_001341735.1:n.-401C>T
NM_001372055.1:c.-685C>T NP_001358984.1:n.-685C>T
NM_003306.3:c.523C>T NP_003297.1:p.Arg175Cys
NM_016179.4:c.523C>T MANE Select NP_057263.1:p.Arg175Cys