Canonical Allele Identifier: CA5906737
Community Standard Title: NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser)
Gene: KCNC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17771900A>G , CM000673.2:g.17771900A>G GRCh38
NC_000011.9:g.17793447A>G , CM000673.1:g.17793447A>G GRCh37
NC_000011.8:g.17750023A>G NCBI36
NG_041827.1:g.40953A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001112741.2:c.806A>G MANE Select NP_001106212.1:p.Asn269Ser
ENST00000265969.8:c.806A>G MANE Select ENSP00000265969.7:p.Asn269Ser
NM_001112741.1:c.806A>G NP_001106212.1:p.Asn269Ser
NM_004976.4:c.806A>G NP_004967.1:p.Asn269Ser
ENST00000265969.6:c.806A>G ENSP00000265969.6:p.Asn269Ser
ENST00000379472.3:c.806A>G ENSP00000368785.3:p.Asn269Ser
ENST00000379472.4:c.806A>G ENSP00000368785.3:p.Asn269Ser
ENST00000639325.2:c.806A>G ENSP00000492663.2:p.Asn269Ser
ENST00000640153.1:n.334A>G
ENST00000640318.2:c.806A>G ENSP00000491189.2:p.Asn269Ser
ENST00000640909.2:c.806A>G ENSP00000491644.2:p.Asn269Ser
ENST00000675775.1:c.806A>G ENSP00000502716.1:p.Asn269Ser
XM_011520078.1:c.806A>G XP_011518380.1:p.Asn269Ser
XM_011520079.1:c.806A>G XP_011518381.1:p.Asn269Ser
XM_011520080.1:c.806A>G XP_011518382.1:p.Asn269Ser
XM_011520081.1:c.806A>G XP_011518383.1:p.Asn269Ser
XR_930866.1:n.899A>G
XR_930866.2:n.1999A>G