Canonical Allele Identifier: CA16606898
Gene: KCNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392871
ClinVar RCV Id: RCV000444984 RCV001266991 RCV003133264 RCV003401436
dbSNP Id: rs1057524670
MyVariant Identifiers: chr11:g.17793935G>A (hg19) chr11:g.17772388G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17772388G>A , CM000673.2:g.17772388G>A GRCh38
NC_000011.9:g.17793935G>A , CM000673.1:g.17793935G>A GRCh37
NC_000011.8:g.17750511G>A NCBI36
NG_041827.1:g.41441G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265969.8:c.1294G>A MANE Select ENSP00000265969.7:p.Val432Met
ENST00000379472.4:c.1294G>A ENSP00000368785.3:p.Val432Met
ENST00000639325.2:c.1294G>A ENSP00000492663.2:p.Val432Met
ENST00000639495.1:c.198G>A
ENST00000640153.1:n.822G>A
ENST00000640318.2:c.1294G>A ENSP00000491189.2:p.Val432Met
ENST00000640909.2:c.1294G>A ENSP00000491644.2:p.Val432Met
ENST00000675775.1:c.1294G>A ENSP00000502716.1:p.Val432Met
ENST00000265969.6:c.1294G>A ENSP00000265969.6:p.Val432Met
ENST00000379472.3:c.1294G>A ENSP00000368785.3:p.Val432Met
NM_001112741.1:c.1294G>A NP_001106212.1:p.Val432Met
NM_004976.4:c.1294G>A NP_004967.1:p.Val432Met
XM_011520078.1:c.1294G>A XP_011518380.1:p.Val432Met
XM_011520079.1:c.1294G>A XP_011518381.1:p.Val432Met
XM_011520080.1:c.1294G>A XP_011518382.1:p.Val432Met
XM_011520081.1:c.1294G>A XP_011518383.1:p.Val432Met
XR_930866.1:n.1387G>A
XR_930866.2:n.2487G>A
NM_001112741.2:c.1294G>A MANE Select NP_001106212.1:p.Val432Met
Search 100 bp 5'
Search 100 bp 3'