Canonical Allele Identifier: CA007529
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570718C>T
GRCh37 chr11:g.2591948C>T
Revel Score:
ENST00000496887 0.895
ENST00000155840 (MANE Select) 0.895
ENST00000335475 0.895
gnomAD v2:
11:2591948 C / T
gnomAD v3:
11:2570718 C / T
gnomAD v4:
chr11-2570718-C-T
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570718C>T , CM000673.2:g.2570718C>T GRCh38
NC_000011.9:g.2591948C>T , CM000673.1:g.2591948C>T GRCh37
NC_000011.8:g.2548524C>T NCBI36
NG_008935.1:g.130728C>T , LRG_287:g.130728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.307C>T ENSP00000434560.2:p.Arg103Trp
ENST00000646564.2:c.478-12717C>T ENSP00000495806.2:n.478-12717C>T
ENST00000155840.12:c.568C>T MANE Select ENSP00000155840.2:p.Arg190Trp
ENST00000335475.6:c.187C>T ENSP00000334497.5:p.Arg63Trp
ENST00000646564.1:c.124-12717C>T ENSP00000495806.1:n.124-12717C>T
ENST00000155840.9:c.568C>T ENSP00000155840.2:p.Arg190Trp
ENST00000335475.5:c.187C>T ENSP00000334497.5:p.Arg63Trp
ENST00000496887.6:c.307C>T ENSP00000434560.1:p.Arg103Trp
NM_000218.2:c.568C>T , LRG_287t1:c.568C>T NP_000209.2:p.Arg190Trp
NM_181798.1:c.187C>T , LRG_287t2:c.187C>T NP_861463.1:p.Arg63Trp
NM_000218.3:c.568C>T MANE Select NP_000209.2:p.Arg190Trp
Search 100 bp 5'
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