Canonical Allele Identifier: CA218497027
Community Standard Title: NM_001112741.2(KCNC1):c.500G>A (p.Gly167Asp)
Gene: KCNC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17736502G>A , CM000673.2:g.17736502G>A GRCh38
NC_000011.9:g.17758049G>A , CM000673.1:g.17758049G>A GRCh37
NC_000011.8:g.17714625G>A NCBI36
NG_041827.1:g.5555G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001112741.2:c.500G>A MANE Select NP_001106212.1:p.Gly167Asp
ENST00000265969.8:c.500G>A MANE Select ENSP00000265969.7:p.Gly167Asp
NM_001112741.1:c.500G>A NP_001106212.1:p.Gly167Asp
NM_004976.4:c.500G>A NP_004967.1:p.Gly167Asp
ENST00000265969.6:c.500G>A ENSP00000265969.6:p.Gly167Asp
ENST00000379472.3:c.500G>A ENSP00000368785.3:p.Gly167Asp
ENST00000379472.4:c.500G>A ENSP00000368785.3:p.Gly167Asp
ENST00000639325.2:c.500G>A ENSP00000492663.2:p.Gly167Asp
ENST00000640318.2:c.500G>A ENSP00000491189.2:p.Gly167Asp
ENST00000640909.2:c.500G>A ENSP00000491644.2:p.Gly167Asp
ENST00000675775.1:c.500G>A ENSP00000502716.1:p.Gly167Asp
XM_011520078.1:c.500G>A XP_011518380.1:p.Gly167Asp
XM_011520079.1:c.500G>A XP_011518381.1:p.Gly167Asp
XM_011520080.1:c.500G>A XP_011518382.1:p.Gly167Asp
XM_011520081.1:c.500G>A XP_011518383.1:p.Gly167Asp
XR_930866.1:n.593G>A
XR_930866.2:n.1693G>A