Canonical Allele Identifier: CA006388
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2778024G>A
GRCh37 chr11:g.2799254G>A
Revel Score:
ENST00000155840 (MANE Select) 0.846
ENST00000335475 0.846
gnomAD v2:
11:2799254 G / A
gnomAD v3:
11:2778024 G / A
gnomAD v4:
chr11-2778024-G-A
Joint Max Group AF 0.00001772 (EAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002003 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2778024G>A , CM000673.2:g.2778024G>A GRCh38
NC_000011.9:g.2799254G>A , CM000673.1:g.2799254G>A GRCh37
NC_000011.8:g.2755830G>A NCBI36
NG_008935.1:g.338034G>A , LRG_287:g.338034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1424G>A ENSP00000434560.2:p.Arg475Gln
ENST00000646564.2:c.1241G>A ENSP00000495806.2:p.Arg414Gln
ENST00000155840.12:c.1781G>A MANE Select ENSP00000155840.2:p.Arg594Gln
ENST00000335475.6:c.1400G>A ENSP00000334497.5:p.Arg467Gln
ENST00000526095.2:c.185G>A ENSP00000494939.1:p.Arg62Gln
ENST00000646564.1:c.887G>A ENSP00000495806.1:p.Arg296Gln
ENST00000155840.9:c.1781G>A ENSP00000155840.2:p.Arg594Gln
ENST00000335475.5:c.1400G>A ENSP00000334497.5:p.Arg467Gln
ENST00000526095.1:n.288G>A
NM_000218.2:c.1781G>A , LRG_287t1:c.1781G>A NP_000209.2:p.Arg594Gln
NM_181798.1:c.1400G>A , LRG_287t2:c.1400G>A NP_861463.1:p.Arg467Gln
NM_000218.3:c.1781G>A MANE Select NP_000209.2:p.Arg594Gln
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