Canonical Allele Identifier: CA472415616
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1727606
ClinVar RCV Id: RCV002325946
dbSNP Id: rs1264996625
gnomAD v3: 11-2445128-C-G
gnomAD v4: 11-2445128-C-G
MyVariant Identifiers: chr11:g.2466358C>G (hg19) chr11:g.2445128C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445128C>G , CM000673.2:g.2445128C>G GRCh38
NC_000011.9:g.2466358C>G , CM000673.1:g.2466358C>G GRCh37
NC_000011.8:g.2422934C>G NCBI36
NG_008935.1:g.5138C>G , LRG_287:g.5138C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-255C>G ENSP00000434560.2:n.24-255C>G
ENST00000646564.2:c.30C>G ENSP00000495806.2:p.Ala10=
ENST00000155840.12:c.30C>G MANE Select ENSP00000155840.2:p.Ala10=
ENST00000155840.9:c.30C>G ENSP00000155840.2:p.Ala10=
ENST00000496887.6:c.24-255C>G ENSP00000434560.1:n.24-255C>G
NM_000218.2:c.30C>G , LRG_287t1:c.30C>G NP_000209.2:p.Ala10=
NM_000218.3:c.30C>G MANE Select NP_000209.2:p.Ala10=
Search 100 bp 5'
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