Canonical Allele Identifier: CA008339
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2572883T>G
GRCh37 chr11:g.2594113T>G
Revel Score:
ENST00000496887 0.974
ENST00000155840 (MANE Select) 0.974
ENST00000335475 0.974
ClinVar RCV:
RCV000057770
RCV001852978
ClinVar Variation:
53110
dbSNP:
199472727
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572883T>G , CM000673.2:g.2572883T>G GRCh38
NC_000011.9:g.2594113T>G , CM000673.1:g.2594113T>G GRCh37
NC_000011.8:g.2550689T>G NCBI36
NG_008935.1:g.132893T>G , LRG_287:g.132893T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.557T>G ENSP00000434560.2:p.Leu186Arg
ENST00000646564.2:c.478-10552T>G ENSP00000495806.2:n.478-10552T>G
ENST00000155840.12:c.818T>G MANE Select ENSP00000155840.2:p.Leu273Arg
ENST00000335475.6:c.437T>G ENSP00000334497.5:p.Leu146Arg
ENST00000646564.1:c.124-10552T>G ENSP00000495806.1:n.124-10552T>G
ENST00000155840.9:c.818T>G ENSP00000155840.2:p.Leu273Arg
ENST00000335475.5:c.437T>G ENSP00000334497.5:p.Leu146Arg
ENST00000496887.6:c.557T>G ENSP00000434560.1:p.Leu186Arg
NM_000218.2:c.818T>G , LRG_287t1:c.818T>G NP_000209.2:p.Leu273Arg
NM_181798.1:c.437T>G , LRG_287t2:c.437T>G NP_861463.1:p.Leu146Arg
NM_000218.3:c.818T>G MANE Select NP_000209.2:p.Leu273Arg
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