Canonical Allele Identifier: CA214540

Gene: KCNC1

Linked Data

• ClinVar Variation Id: 162519
• ClinVar RCV Id: RCV000149909 ; RCV002371993 ; RCV003482236
• dbSNP Id: rs727502818
• gnomAD v4: 11-17772053-G-A
• COSMIC: COSM925537 ; COSM1585629
• MyVariant Identifiers: chr11:g.17793600G>A (hg19) ; chr11:g.17772053G>A (hg38)
• PubMed: PMID:25401298

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17772053G>A , CM000673.2:g.17772053G>A	GRCh38
NC_000011.9:g.17793600G>A , CM000673.1:g.17793600G>A	GRCh37
NC_000011.8:g.17750176G>A	NCBI36
NG_041827.1:g.41106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265969.8:c.959G>A MANE Select	ENSP00000265969.7:p.Arg320His
ENST00000379472.4:c.959G>A	ENSP00000368785.3:p.Arg320His
ENST00000639325.2:c.959G>A	ENSP00000492663.2:p.Arg320His
ENST00000640153.1:n.487G>A
ENST00000640318.2:c.959G>A	ENSP00000491189.2:p.Arg320His
ENST00000640909.2:c.959G>A	ENSP00000491644.2:p.Arg320His
ENST00000675775.1:c.959G>A	ENSP00000502716.1:p.Arg320His
ENST00000265969.6:c.959G>A	ENSP00000265969.6:p.Arg320His
ENST00000379472.3:c.959G>A	ENSP00000368785.3:p.Arg320His
NM_001112741.1:c.959G>A	NP_001106212.1:p.Arg320His
NM_004976.4:c.959G>A	NP_004967.1:p.Arg320His
XM_011520078.1:c.959G>A	XP_011518380.1:p.Arg320His
XM_011520079.1:c.959G>A	XP_011518381.1:p.Arg320His
XM_011520080.1:c.959G>A	XP_011518382.1:p.Arg320His
XM_011520081.1:c.959G>A	XP_011518383.1:p.Arg320His
XR_930866.1:n.1052G>A
XR_930866.2:n.2152G>A
NM_001112741.2:c.959G>A MANE Select	NP_001106212.1:p.Arg320His