Canonical Allele Identifier: CA008316
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572880G>A
GRCh37 chr11:g.2594110G>A
Revel Score:
ENST00000496887 0.914
ENST00000155840 (MANE Select) 0.914
ENST00000335475 0.914
gnomAD v2:
11:2594110 G / A
gnomAD v4:
chr11-2572880-G-A
Joint Max Group AF 0.00002254 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572880G>A , CM000673.2:g.2572880G>A GRCh38
NC_000011.9:g.2594110G>A , CM000673.1:g.2594110G>A GRCh37
NC_000011.8:g.2550686G>A NCBI36
NG_008935.1:g.132890G>A , LRG_287:g.132890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.554G>A ENSP00000434560.2:p.Gly185Asp
ENST00000646564.2:c.478-10555G>A ENSP00000495806.2:n.478-10555G>A
ENST00000155840.12:c.815G>A MANE Select ENSP00000155840.2:p.Gly272Asp
ENST00000335475.6:c.434G>A ENSP00000334497.5:p.Gly145Asp
ENST00000646564.1:c.124-10555G>A ENSP00000495806.1:n.124-10555G>A
ENST00000155840.9:c.815G>A ENSP00000155840.2:p.Gly272Asp
ENST00000335475.5:c.434G>A ENSP00000334497.5:p.Gly145Asp
ENST00000496887.6:c.554G>A ENSP00000434560.1:p.Gly185Asp
NM_000218.2:c.815G>A , LRG_287t1:c.815G>A NP_000209.2:p.Gly272Asp
NM_181798.1:c.434G>A , LRG_287t2:c.434G>A NP_861463.1:p.Gly145Asp
NM_000218.3:c.815G>A MANE Select NP_000209.2:p.Gly272Asp
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