Canonical Allele Identifier: CA379805811
Community Standard Title: NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)
Gene: KCNC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17771785A>G , CM000673.2:g.17771785A>G GRCh38
NC_000011.9:g.17793332A>G , CM000673.1:g.17793332A>G GRCh37
NC_000011.8:g.17749908A>G NCBI36
NG_041827.1:g.40838A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001112741.2:c.691A>G MANE Select NP_001106212.1:p.Thr231Ala
ENST00000265969.8:c.691A>G MANE Select ENSP00000265969.7:p.Thr231Ala
NM_001112741.1:c.691A>G NP_001106212.1:p.Thr231Ala
NM_004976.4:c.691A>G NP_004967.1:p.Thr231Ala
ENST00000265969.6:c.691A>G ENSP00000265969.6:p.Thr231Ala
ENST00000379472.3:c.691A>G ENSP00000368785.3:p.Thr231Ala
ENST00000379472.4:c.691A>G ENSP00000368785.3:p.Thr231Ala
ENST00000639325.2:c.691A>G ENSP00000492663.2:p.Thr231Ala
ENST00000640153.1:n.219A>G
ENST00000640318.2:c.691A>G ENSP00000491189.2:p.Thr231Ala
ENST00000640909.2:c.691A>G ENSP00000491644.2:p.Thr231Ala
ENST00000675775.1:c.691A>G ENSP00000502716.1:p.Thr231Ala
XM_011520078.1:c.691A>G XP_011518380.1:p.Thr231Ala
XM_011520079.1:c.691A>G XP_011518381.1:p.Thr231Ala
XM_011520080.1:c.691A>G XP_011518382.1:p.Thr231Ala
XM_011520081.1:c.691A>G XP_011518383.1:p.Thr231Ala
XR_930866.1:n.784A>G
XR_930866.2:n.1884A>G