Canonical Allele Identifier: CA256862

Gene: KCNC3

Linked Data

• ClinVar Variation Id: 13474
• ClinVar RCV Id: RCV000014416
• dbSNP Id: rs104894700
• MyVariant Identifiers: chr19:g.50826866G>T (hg19) ; chr19:g.50323609G>T (hg38)
• PubMed: PMID:10820125 ; PMID:16501573

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50323609G>T , CM000681.2:g.50323609G>T	GRCh38
NC_000019.9:g.50826866G>T , CM000681.1:g.50826866G>T	GRCh37
NC_000019.8:g.55518678G>T	NCBI36
NG_008134.2:g.10769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477616.2:c.1344C>A MANE Select	ENSP00000434241.1:p.Phe448Leu
ENST00000670667.1:c.1344C>A	ENSP00000499301.1:p.Phe448Leu
ENST00000376959.6:c.1344C>A	ENSP00000366158.2:p.Phe448Leu
ENST00000474951.1:c.-74-2825C>A	ENSP00000432438.1:n.-74-2825C>A
ENST00000477616.1:c.1344C>A	ENSP00000434241.1:p.Phe448Leu
NM_004977.2:c.1344C>A	NP_004968.2:p.Phe448Leu
NR_110912.1:n.48-2825C>A
XM_006723203.2:c.1344C>A	XP_006723266.1:p.Phe448Leu
XM_011526925.1:c.1344C>A	XP_011525227.1:p.Phe448Leu
XM_011526926.1:c.1344C>A	XP_011525228.1:p.Phe448Leu
XM_011526927.1:c.1344C>A	XP_011525229.1:p.Phe448Leu
XM_011526928.1:c.1344C>A	XP_011525230.1:p.Phe448Leu
NM_001372305.1:c.1116C>A	NP_001359234.1:p.Phe372Leu
NM_004977.3:c.1344C>A MANE Select	NP_004968.2:p.Phe448Leu
NR_110912.2:n.69-2825C>A