Canonical Allele Identifier: CA204646

Gene: KCNC3

Linked Data

• ClinVar Variation Id: 208671
• ClinVar RCV Id: RCV000190682 ; RCV000277864 ; RCV000613729
• dbSNP Id: rs797044872
• MyVariant Identifiers: chr19:g.50826942C>T (hg19) ; chr19:g.50323685C>T (hg38)
• PubMed: PMID:26795593

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50323685C>T , CM000681.2:g.50323685C>T	GRCh38
NC_000019.9:g.50826942C>T , CM000681.1:g.50826942C>T	GRCh37
NC_000019.8:g.55518754C>T	NCBI36
NG_008134.2:g.10693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477616.2:c.1268G>A MANE Select	ENSP00000434241.1:p.Arg423His
ENST00000670667.1:c.1268G>A	ENSP00000499301.1:p.Arg423His
ENST00000376959.6:c.1268G>A	ENSP00000366158.2:p.Arg423His
ENST00000474951.1:c.-74-2901G>A	ENSP00000432438.1:n.-74-2901G>A
ENST00000477616.1:c.1268G>A	ENSP00000434241.1:p.Arg423His
NM_004977.2:c.1268G>A	NP_004968.2:p.Arg423His
NR_110912.1:n.48-2901G>A
XM_006723203.2:c.1268G>A	XP_006723266.1:p.Arg423His
XM_011526925.1:c.1268G>A	XP_011525227.1:p.Arg423His
XM_011526926.1:c.1268G>A	XP_011525228.1:p.Arg423His
XM_011526927.1:c.1268G>A	XP_011525229.1:p.Arg423His
XM_011526928.1:c.1268G>A	XP_011525230.1:p.Arg423His
NM_001372305.1:c.1040G>A	NP_001359234.1:p.Arg347His
NM_004977.3:c.1268G>A MANE Select	NP_004968.2:p.Arg423His
NR_110912.2:n.69-2901G>A