Canonical Allele Identifier: CA007777
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2571333G>A
GRCh37 chr11:g.2592563G>A
Revel Score:
ENST00000496887 0.942
ENST00000155840 (MANE Select) 0.942
ENST00000335475 0.942
gnomAD v2:
11:2592563 G / A
gnomAD v3:
11:2571333 G / A
gnomAD v4:
chr11-2571333-G-A
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.0000474 (AFR)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571333G>A , CM000673.2:g.2571333G>A GRCh38
NC_000011.9:g.2592563G>A , CM000673.1:g.2592563G>A GRCh37
NC_000011.8:g.2549139G>A NCBI36
NG_008935.1:g.131343G>A , LRG_287:g.131343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.352G>A ENSP00000434560.2:p.Val118Met
ENST00000646564.2:c.478-12102G>A ENSP00000495806.2:n.478-12102G>A
ENST00000155840.12:c.613G>A MANE Select ENSP00000155840.2:p.Val205Met
ENST00000335475.6:c.232G>A ENSP00000334497.5:p.Val78Met
ENST00000646564.1:c.124-12102G>A ENSP00000495806.1:n.124-12102G>A
ENST00000155840.9:c.613G>A ENSP00000155840.2:p.Val205Met
ENST00000335475.5:c.232G>A ENSP00000334497.5:p.Val78Met
ENST00000496887.6:c.352G>A ENSP00000434560.1:p.Val118Met
NM_000218.2:c.613G>A , LRG_287t1:c.613G>A NP_000209.2:p.Val205Met
NM_181798.1:c.232G>A , LRG_287t2:c.232G>A NP_861463.1:p.Val78Met
NM_000218.3:c.613G>A MANE Select NP_000209.2:p.Val205Met
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