Canonical Allele Identifier: CA379116196
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 840373
ClinVar RCV Id: RCV001042344
dbSNP Id: rs1373379406
gnomAD v3: 11-2445202-C-T
gnomAD v4: 11-2445202-C-T
MyVariant Identifiers: chr11:g.2466432C>T (hg19) chr11:g.2445202C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445202C>T , CM000673.2:g.2445202C>T GRCh38
NC_000011.9:g.2466432C>T , CM000673.1:g.2466432C>T GRCh37
NC_000011.8:g.2423008C>T NCBI36
NG_008935.1:g.5212C>T , LRG_287:g.5212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-181C>T ENSP00000434560.2:n.24-181C>T
ENST00000646564.2:c.104C>T ENSP00000495806.2:p.Pro35Leu
ENST00000155840.12:c.104C>T MANE Select ENSP00000155840.2:p.Pro35Leu
ENST00000155840.9:c.104C>T ENSP00000155840.2:p.Pro35Leu
ENST00000496887.6:c.24-181C>T ENSP00000434560.1:n.24-181C>T
NM_000218.2:c.104C>T , LRG_287t1:c.104C>T NP_000209.2:p.Pro35Leu
NM_000218.3:c.104C>T MANE Select NP_000209.2:p.Pro35Leu
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