Canonical Allele Identifier: CA16619298
Gene: KCNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422256
ClinVar RCV Id: RCV000480517
dbSNP Id: rs1064795663

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17779621C>T , CM000673.2:g.17779621C>T GRCh38
NC_000011.9:g.17801168C>T , CM000673.1:g.17801168C>T GRCh37
NC_000011.8:g.17757744C>T NCBI36
NG_041827.1:g.48674C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265969.8:c.1670C>T MANE Select ENSP00000265969.7:p.Pro557Leu
ENST00000638366.1:c.388C>T ENSP00000491016.1:n.388C>T
ENST00000638395.1:n.371C>T
ENST00000638825.1:c.207C>T
ENST00000639325.2:c.1670C>T ENSP00000492663.2:p.Pro557Leu
ENST00000639495.1:c.408+7023C>T
ENST00000640318.2:c.1670C>T ENSP00000491189.2:p.Pro557Leu
ENST00000640461.1:c.72+7023C>T
ENST00000640909.2:c.1670C>T ENSP00000491644.2:p.Pro557Leu
ENST00000675775.1:c.1670C>T ENSP00000502716.1:p.Pro557Leu
ENST00000265969.6:c.1670C>T ENSP00000265969.6:p.Pro557Leu
ENST00000525802.1:n.446C>T
ENST00000526029.1:n.450C>T
NM_001112741.1:c.1670C>T NP_001106212.1:p.Pro557Leu
XM_011520078.1:c.1504+7023C>T XP_011518380.1:n.1504+7023C>T
XM_011520079.1:c.1504+7023C>T XP_011518381.1:n.1504+7023C>T
NM_001112741.2:c.1670C>T MANE Select NP_001106212.1:p.Pro557Leu