Canonical Allele Identifier: CA007932
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572030A>C
GRCh37 chr11:g.2593260A>C
Revel Score:
ENST00000496887 0.971
ENST00000155840 (MANE Select) 0.971
ENST00000335475 0.971
ClinVar RCV:
RCV000505717
ClinVar Variation:
200896
dbSNP:
794728570
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572030A>C , CM000673.2:g.2572030A>C GRCh38
NC_000011.9:g.2593260A>C , CM000673.1:g.2593260A>C GRCh37
NC_000011.8:g.2549836A>C NCBI36
NG_008935.1:g.132040A>C , LRG_287:g.132040A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.440A>C ENSP00000434560.2:p.Gln147Pro
ENST00000646564.2:c.478-11405A>C ENSP00000495806.2:n.478-11405A>C
ENST00000155840.12:c.701A>C MANE Select ENSP00000155840.2:p.Gln234Pro
ENST00000335475.6:c.320A>C ENSP00000334497.5:p.Gln107Pro
ENST00000646564.1:c.124-11405A>C ENSP00000495806.1:n.124-11405A>C
ENST00000155840.9:c.701A>C ENSP00000155840.2:p.Gln234Pro
ENST00000335475.5:c.320A>C ENSP00000334497.5:p.Gln107Pro
ENST00000496887.6:c.440A>C ENSP00000434560.1:p.Gln147Pro
NM_000218.2:c.701A>C , LRG_287t1:c.701A>C NP_000209.2:p.Gln234Pro
NM_181798.1:c.320A>C , LRG_287t2:c.320A>C NP_861463.1:p.Gln107Pro
NM_000218.3:c.701A>C MANE Select NP_000209.2:p.Gln234Pro
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