Canonical Allele Identifier: CA379807400
Community Standard Title: NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
Gene: KCNC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17772117C>G , CM000673.2:g.17772117C>G GRCh38
NC_000011.9:g.17793664C>G , CM000673.1:g.17793664C>G GRCh37
NC_000011.8:g.17750240C>G NCBI36
NG_041827.1:g.41170C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001112741.2:c.1023C>G MANE Select NP_001106212.1:p.Ser341Arg
ENST00000265969.8:c.1023C>G MANE Select ENSP00000265969.7:p.Ser341Arg
NM_001112741.1:c.1023C>G NP_001106212.1:p.Ser341Arg
NM_004976.4:c.1023C>G NP_004967.1:p.Ser341Arg
ENST00000265969.6:c.1023C>G ENSP00000265969.6:p.Ser341Arg
ENST00000379472.3:c.1023C>G ENSP00000368785.3:p.Ser341Arg
ENST00000379472.4:c.1023C>G ENSP00000368785.3:p.Ser341Arg
ENST00000639325.2:c.1023C>G ENSP00000492663.2:p.Ser341Arg
ENST00000640153.1:n.551C>G
ENST00000640318.2:c.1023C>G ENSP00000491189.2:p.Ser341Arg
ENST00000640909.2:c.1023C>G ENSP00000491644.2:p.Ser341Arg
ENST00000675775.1:c.1023C>G ENSP00000502716.1:p.Ser341Arg
XM_011520078.1:c.1023C>G XP_011518380.1:p.Ser341Arg
XM_011520079.1:c.1023C>G XP_011518381.1:p.Ser341Arg
XM_011520080.1:c.1023C>G XP_011518382.1:p.Ser341Arg
XM_011520081.1:c.1023C>G XP_011518383.1:p.Ser341Arg
XR_930866.1:n.1116C>G
XR_930866.2:n.2216C>G