Canonical Allele Identifier: CA005686
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2588816G>T
GRCh37 chr11:g.2610046G>T
Revel Score:
ENST00000155840 (MANE Select) 0.600
ENST00000335475 0.600
gnomAD v2:
11:2610046 G / T
gnomAD v3:
11:2588816 G / T
gnomAD v4:
chr11-2588816-G-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
197482
ClinVar RCV:
RCV000182318
RCV001852308
RCV002381590
ClinVar Variation:
200904
dbSNP:
145229963
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588816G>T , CM000673.2:g.2588816G>T GRCh38
NC_000011.9:g.2610046G>T , CM000673.1:g.2610046G>T GRCh37
NC_000011.8:g.2566622G>T NCBI36
NG_008935.1:g.148826G>T , LRG_287:g.148826G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.998G>T ENSP00000434560.2:p.Arg333Leu
ENST00000646564.2:c.815G>T ENSP00000495806.2:p.Arg272Leu
ENST00000155840.12:c.1355G>T MANE Select ENSP00000155840.2:p.Arg452Leu
ENST00000335475.6:c.974G>T ENSP00000334497.5:p.Arg325Leu
ENST00000646564.1:c.461G>T ENSP00000495806.1:p.Arg154Leu
ENST00000155840.9:c.1355G>T ENSP00000155840.2:p.Arg452Leu
ENST00000335475.5:c.974G>T ENSP00000334497.5:p.Arg325Leu
NM_000218.2:c.1355G>T , LRG_287t1:c.1355G>T NP_000209.2:p.Arg452Leu
NM_181798.1:c.974G>T , LRG_287t2:c.974G>T NP_861463.1:p.Arg325Leu
NM_000218.3:c.1355G>T MANE Select NP_000209.2:p.Arg452Leu
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