Canonical Allele Identifier: CA15687957
Gene: KCNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.17774564A>C
GRCh37 chr11:g.17796111A>C
gnomAD v2:
11:17796111 A / C
gnomAD v3:
11:17774564 A / C
gnomAD v4:
chr11-17774564-A-C
Joint Max Group AF 0.05825984 (AFR)
Genomes Max Group AF 0.05847931 (AFR)
Exomes Max Group AF 0.05543491 (AFR)
dbSNP:
60349741
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17774564A>C , CM000673.2:g.17774564A>C GRCh38
NC_000011.9:g.17796111A>C , CM000673.1:g.17796111A>C GRCh37
NC_000011.8:g.17752687A>C NCBI36
NG_041827.1:g.43617A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265969.8:c.1504+1966A>C MANE Select ENSP00000265969.7:n.1504+1966A>C
ENST00000379472.4:c.*1934A>C ENSP00000368785.3:n.*1934A>C
ENST00000638366.1:c.222+734A>C ENSP00000491016.1:n.222+734A>C
ENST00000638395.1:n.205+734A>C
ENST00000638825.1:c.41+1966A>C
ENST00000639325.2:c.1504+1966A>C ENSP00000492663.2:n.1504+1966A>C
ENST00000639495.1:c.408+1966A>C
ENST00000640318.2:c.1504+1966A>C ENSP00000491189.2:n.1504+1966A>C
ENST00000640461.1:c.72+1966A>C
ENST00000640909.2:c.1504+1966A>C ENSP00000491644.2:n.1504+1966A>C
ENST00000675775.1:c.1504+1966A>C ENSP00000502716.1:n.1504+1966A>C
ENST00000265969.6:c.1504+1966A>C ENSP00000265969.6:n.1504+1966A>C
ENST00000379472.3:c.*1934A>C ENSP00000368785.3:n.*1934A>C
ENST00000525802.1:n.280+734A>C
NM_001112741.1:c.1504+1966A>C NP_001106212.1:n.1504+1966A>C
NM_004976.4:c.*1934A>C NP_004967.1:n.*1934A>C
XM_011520078.1:c.1504+1966A>C XP_011518380.1:n.1504+1966A>C
XM_011520079.1:c.1504+1966A>C XP_011518381.1:n.1504+1966A>C
XM_011520080.1:c.1566+734A>C XP_011518382.1:n.1566+734A>C
XM_011520081.1:c.1504+1966A>C XP_011518383.1:n.1504+1966A>C
NM_001112741.2:c.1504+1966A>C MANE Select NP_001106212.1:n.1504+1966A>C
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