Canonical Allele Identifier: CA007637
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570733C>T
GRCh37 chr11:g.2591963C>T
Revel Score:
ENST00000496887 0.884
ENST00000155840 (MANE Select) 0.884
ENST00000335475 0.884
gnomAD v2:
11:2591963 C / T
gnomAD v3:
11:2570733 C / T
gnomAD v4:
chr11-2570733-C-T
Joint Max Group AF 0.00001454 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00001175 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570733C>T , CM000673.2:g.2570733C>T GRCh38
NC_000011.9:g.2591963C>T , CM000673.1:g.2591963C>T GRCh37
NC_000011.8:g.2548539C>T NCBI36
NG_008935.1:g.130743C>T , LRG_287:g.130743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.322C>T ENSP00000434560.2:p.Arg108Trp
ENST00000646564.2:c.478-12702C>T ENSP00000495806.2:n.478-12702C>T
ENST00000155840.12:c.583C>T MANE Select ENSP00000155840.2:p.Arg195Trp
ENST00000335475.6:c.202C>T ENSP00000334497.5:p.Arg68Trp
ENST00000646564.1:c.124-12702C>T ENSP00000495806.1:n.124-12702C>T
ENST00000155840.9:c.583C>T ENSP00000155840.2:p.Arg195Trp
ENST00000335475.5:c.202C>T ENSP00000334497.5:p.Arg68Trp
ENST00000496887.6:c.322C>T ENSP00000434560.1:p.Arg108Trp
NM_000218.2:c.583C>T , LRG_287t1:c.583C>T NP_000209.2:p.Arg195Trp
NM_181798.1:c.202C>T , LRG_287t2:c.202C>T NP_861463.1:p.Arg68Trp
NM_000218.3:c.583C>T MANE Select NP_000209.2:p.Arg195Trp
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