Canonical Allele Identifier: CA005247
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2585272A>C
GRCh37 chr11:g.2606502A>C
Revel Score:
ENST00000155840 (MANE Select) 0.898
ENST00000335475 0.898
ClinVar Allele:
77907
ClinVar RCV:
RCV000057550
ClinVar Variation:
67011
dbSNP:
199473409
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+1727A>C ENSP00000434560.2:n.771+1727A>C
ENST00000646564.2:c.588+1727A>C ENSP00000495806.2:n.588+1727A>C
ENST00000155840.12:c.1093A>C MANE Select ENSP00000155840.2:p.Asn365His
ENST00000335475.6:c.712A>C ENSP00000334497.5:p.Asn238His
ENST00000646564.1:c.234+1727A>C ENSP00000495806.1:n.234+1727A>C
ENST00000155840.9:c.1093A>C ENSP00000155840.2:p.Asn365His
ENST00000335475.5:c.712A>C ENSP00000334497.5:p.Asn238His
NM_000218.2:c.1093A>C , LRG_287t1:c.1093A>C NP_000209.2:p.Asn365His
NM_181798.1:c.712A>C , LRG_287t2:c.712A>C NP_861463.1:p.Asn238His
NM_000218.3:c.1093A>C MANE Select NP_000209.2:p.Asn365His
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