Canonical Allele Identifier: CA16620878
Gene: KCNC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 422460
ClinVar RCV Id: RCV000482974
dbSNP Id: rs1064795793
MyVariant Identifiers: chr19:g.50823941G>C (hg19) chr19:g.50320684G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50320684G>C , CM000681.2:g.50320684G>C GRCh38
NC_000019.9:g.50823941G>C , CM000681.1:g.50823941G>C GRCh37
NC_000019.8:g.55515753G>C NCBI36
NG_008134.2:g.13694C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000477616.2:c.2079C>G MANE Select ENSP00000434241.1:p.Ile693Met
ENST00000670667.1:c.2079C>G ENSP00000499301.1:p.Ile693Met
ENST00000376959.6:c.2079C>G ENSP00000366158.2:p.Ile693Met
ENST00000474951.1:c.27C>G ENSP00000432438.1:p.Ile9Met
ENST00000477616.1:c.2079C>G ENSP00000434241.1:p.Ile693Met
NM_004977.2:c.2079C>G NP_004968.2:p.Ile693Met
NR_110912.1:n.148C>G
XM_006723203.2:c.2079C>G XP_006723266.1:p.Ile693Met
XM_011526925.1:c.2079C>G XP_011525227.1:p.Ile693Met
XM_011526926.1:c.2079C>G XP_011525228.1:p.Ile693Met
XM_011526927.1:c.2079C>G XP_011525229.1:p.Ile693Met
XM_011526928.1:c.2079C>G XP_011525230.1:p.Ile693Met
NM_001372305.1:c.1851C>G NP_001359234.1:p.Ile617Met
NM_004977.3:c.2079C>G MANE Select NP_004968.2:p.Ile693Met
NR_110912.2:n.169C>G
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