Canonical Allele Identifier: CA256861
Gene: KCNC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13473
ClinVar RCV Id: RCV000014415 RCV000992229
dbSNP Id: rs104894699
COSMIC: COSM3797397
MyVariant Identifiers: chr19:g.50826951C>T (hg19) chr19:g.50323694C>T (hg38)
PubMed: PMID:16135769 PMID:16501573 PMID:25497598
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50323694C>T , CM000681.2:g.50323694C>T GRCh38
NC_000019.9:g.50826951C>T , CM000681.1:g.50826951C>T GRCh37
NC_000019.8:g.55518763C>T NCBI36
NG_008134.2:g.10684G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000477616.2:c.1259G>A MANE Select ENSP00000434241.1:p.Arg420His
ENST00000670667.1:c.1259G>A ENSP00000499301.1:p.Arg420His
ENST00000376959.6:c.1259G>A ENSP00000366158.2:p.Arg420His
ENST00000474951.1:c.-74-2910G>A ENSP00000432438.1:n.-74-2910G>A
ENST00000477616.1:c.1259G>A ENSP00000434241.1:p.Arg420His
NM_004977.2:c.1259G>A NP_004968.2:p.Arg420His
NR_110912.1:n.48-2910G>A
XM_006723203.2:c.1259G>A XP_006723266.1:p.Arg420His
XM_011526925.1:c.1259G>A XP_011525227.1:p.Arg420His
XM_011526926.1:c.1259G>A XP_011525228.1:p.Arg420His
XM_011526927.1:c.1259G>A XP_011525229.1:p.Arg420His
XM_011526928.1:c.1259G>A XP_011525230.1:p.Arg420His
NM_001372305.1:c.1031G>A NP_001359234.1:p.Arg344His
NM_004977.3:c.1259G>A MANE Select NP_004968.2:p.Arg420His
NR_110912.2:n.69-2910G>A
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