Canonical Allele Identifier: CA005599
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2588797G>A
GRCh37 chr11:g.2610027G>A
Revel Score:
ENST00000155840 (MANE Select) 0.397
ENST00000335475 0.397
gnomAD v2:
11:2610027 G / A
gnomAD v3:
11:2588797 G / A
gnomAD v4:
chr11-2588797-G-A
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000931 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588797G>A , CM000673.2:g.2588797G>A GRCh38
NC_000011.9:g.2610027G>A , CM000673.1:g.2610027G>A GRCh37
NC_000011.8:g.2566603G>A NCBI36
NG_008935.1:g.148807G>A , LRG_287:g.148807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.979G>A ENSP00000434560.2:p.Asp327Asn
ENST00000646564.2:c.796G>A ENSP00000495806.2:p.Asp266Asn
ENST00000155840.12:c.1336G>A MANE Select ENSP00000155840.2:p.Asp446Asn
ENST00000335475.6:c.955G>A ENSP00000334497.5:p.Asp319Asn
ENST00000646564.1:c.442G>A ENSP00000495806.1:p.Asp148Asn
ENST00000155840.9:c.1336G>A ENSP00000155840.2:p.Asp446Asn
ENST00000335475.5:c.955G>A ENSP00000334497.5:p.Asp319Asn
NM_000218.2:c.1336G>A , LRG_287t1:c.1336G>A NP_000209.2:p.Asp446Asn
NM_181798.1:c.955G>A , LRG_287t2:c.955G>A NP_861463.1:p.Asp319Asn
NM_000218.3:c.1336G>A MANE Select NP_000209.2:p.Asp446Asn
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