Canonical Allele Identifier: CA379808727

Gene: KCNC1

Linked Data

• ClinVar Variation Id: 961788
• ClinVar RCV Id: RCV001235546
• dbSNP Id: rs1355766508
• gnomAD v2: 11-17793864-C-T
• MyVariant Identifiers: chr11:g.17793864C>T (hg19) ; chr11:g.17772317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17772317C>T , CM000673.2:g.17772317C>T	GRCh38
NC_000011.9:g.17793864C>T , CM000673.1:g.17793864C>T	GRCh37
NC_000011.8:g.17750440C>T	NCBI36
NG_041827.1:g.41370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265969.8:c.1223C>T MANE Select	ENSP00000265969.7:p.Pro408Leu
ENST00000379472.4:c.1223C>T	ENSP00000368785.3:p.Pro408Leu
ENST00000639325.2:c.1223C>T	ENSP00000492663.2:p.Pro408Leu
ENST00000639495.1:c.127C>T
ENST00000640153.1:n.751C>T
ENST00000640318.2:c.1223C>T	ENSP00000491189.2:p.Pro408Leu
ENST00000640909.2:c.1223C>T	ENSP00000491644.2:p.Pro408Leu
ENST00000675775.1:c.1223C>T	ENSP00000502716.1:p.Pro408Leu
ENST00000265969.6:c.1223C>T	ENSP00000265969.6:p.Pro408Leu
ENST00000379472.3:c.1223C>T	ENSP00000368785.3:p.Pro408Leu
NM_001112741.1:c.1223C>T	NP_001106212.1:p.Pro408Leu
NM_004976.4:c.1223C>T	NP_004967.1:p.Pro408Leu
XM_011520078.1:c.1223C>T	XP_011518380.1:p.Pro408Leu
XM_011520079.1:c.1223C>T	XP_011518381.1:p.Pro408Leu
XM_011520080.1:c.1223C>T	XP_011518382.1:p.Pro408Leu
XM_011520081.1:c.1223C>T	XP_011518383.1:p.Pro408Leu
XR_930866.1:n.1316C>T
XR_930866.2:n.2416C>T
NM_001112741.2:c.1223C>T MANE Select	NP_001106212.1:p.Pro408Leu