Canonical Allele Identifier: CA5906840
Gene: KCNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.17779488G>A
GRCh37 chr11:g.17801035G>A
Revel Score:
ENST00000265969 (MANE Select) 0.513
gnomAD v2:
11:17801035 G / A
gnomAD v4:
chr11-17779488-G-A
Joint Max Group AF 0.00000656 (AMR)
Exomes Max Group AF 0.00000939 (AMR)
ClinVar RCV:
RCV001307506
ClinVar Variation:
1009942
dbSNP:
769979889
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17779488G>A , CM000673.2:g.17779488G>A GRCh38
NC_000011.9:g.17801035G>A , CM000673.1:g.17801035G>A GRCh37
NC_000011.8:g.17757611G>A NCBI36
NG_041827.1:g.48541G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265969.8:c.1537G>A MANE Select ENSP00000265969.7:p.Ala513Thr
ENST00000638366.1:c.255G>A ENSP00000491016.1:n.255G>A
ENST00000638395.1:n.238G>A
ENST00000638825.1:c.74G>A
ENST00000639325.2:c.1537G>A ENSP00000492663.2:p.Ala513Thr
ENST00000639495.1:c.408+6890G>A
ENST00000640318.2:c.1537G>A ENSP00000491189.2:p.Ala513Thr
ENST00000640461.1:c.72+6890G>A
ENST00000640909.2:c.1537G>A ENSP00000491644.2:p.Ala513Thr
ENST00000675775.1:c.1537G>A ENSP00000502716.1:p.Ala513Thr
ENST00000265969.6:c.1537G>A ENSP00000265969.6:p.Ala513Thr
ENST00000525802.1:n.313G>A
ENST00000526029.1:n.317G>A
NM_001112741.1:c.1537G>A NP_001106212.1:p.Ala513Thr
XM_011520078.1:c.1504+6890G>A XP_011518380.1:n.1504+6890G>A
XM_011520079.1:c.1504+6890G>A XP_011518381.1:n.1504+6890G>A
NM_001112741.2:c.1537G>A MANE Select NP_001106212.1:p.Ala513Thr
Search 100 bp 5'
Search 100 bp 3'