Canonical Allele Identifier: CA379133848
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2585272A>G
GRCh37 chr11:g.2606502A>G
Revel Score:
ENST00000155840 (MANE Select) 0.837
ENST00000335475 0.837
ClinVar Allele:
3895757
ClinVar RCV:
RCV005362063
ClinVar Variation:
3779783
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585272A>G , CM000673.2:g.2585272A>G GRCh38
NC_000011.9:g.2606502A>G , CM000673.1:g.2606502A>G GRCh37
NC_000011.8:g.2563078A>G NCBI36
NG_008935.1:g.145282A>G , LRG_287:g.145282A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+1727A>G ENSP00000434560.2:n.771+1727A>G
ENST00000646564.2:c.588+1727A>G ENSP00000495806.2:n.588+1727A>G
ENST00000155840.12:c.1093A>G MANE Select ENSP00000155840.2:p.Asn365Asp
ENST00000335475.6:c.712A>G ENSP00000334497.5:p.Asn238Asp
ENST00000646564.1:c.234+1727A>G ENSP00000495806.1:n.234+1727A>G
ENST00000155840.9:c.1093A>G ENSP00000155840.2:p.Asn365Asp
ENST00000335475.5:c.712A>G ENSP00000334497.5:p.Asn238Asp
NM_000218.2:c.1093A>G , LRG_287t1:c.1093A>G NP_000209.2:p.Asn365Asp
NM_181798.1:c.712A>G , LRG_287t2:c.712A>G NP_861463.1:p.Asn238Asp
NM_000218.3:c.1093A>G MANE Select NP_000209.2:p.Asn365Asp
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