Canonical Allele Identifier: CA5906721
Community Standard Title: NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)
Gene: KCNC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17771803C>T , CM000673.2:g.17771803C>T GRCh38
NC_000011.9:g.17793350C>T , CM000673.1:g.17793350C>T GRCh37
NC_000011.8:g.17749926C>T NCBI36
NG_041827.1:g.40856C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001112741.2:c.709C>T MANE Select NP_001106212.1:p.Arg237Trp
ENST00000265969.8:c.709C>T MANE Select ENSP00000265969.7:p.Arg237Trp
NM_001112741.1:c.709C>T NP_001106212.1:p.Arg237Trp
NM_004976.4:c.709C>T NP_004967.1:p.Arg237Trp
ENST00000265969.6:c.709C>T ENSP00000265969.6:p.Arg237Trp
ENST00000379472.3:c.709C>T ENSP00000368785.3:p.Arg237Trp
ENST00000379472.4:c.709C>T ENSP00000368785.3:p.Arg237Trp
ENST00000639325.2:c.709C>T ENSP00000492663.2:p.Arg237Trp
ENST00000640153.1:n.237C>T
ENST00000640318.2:c.709C>T ENSP00000491189.2:p.Arg237Trp
ENST00000640909.2:c.709C>T ENSP00000491644.2:p.Arg237Trp
ENST00000675775.1:c.709C>T ENSP00000502716.1:p.Arg237Trp
XM_011520078.1:c.709C>T XP_011518380.1:p.Arg237Trp
XM_011520079.1:c.709C>T XP_011518381.1:p.Arg237Trp
XM_011520080.1:c.709C>T XP_011518382.1:p.Arg237Trp
XM_011520081.1:c.709C>T XP_011518383.1:p.Arg237Trp
XR_930866.1:n.802C>T
XR_930866.2:n.1902C>T