Canonical Allele Identifier: CA005438
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52967
ClinVar RCV Id: RCV000057567
dbSNP Id: rs199473474
MyVariant Identifiers: chr11:g.2608843C>T (hg19) chr11:g.2587613C>T (hg38)
PubMed: PMID:10973849 PMID:15051636 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587613C>T , CM000673.2:g.2587613C>T GRCh38
NC_000011.9:g.2608843C>T , CM000673.1:g.2608843C>T GRCh37
NC_000011.8:g.2565419C>T NCBI36
NG_008935.1:g.147623C>T , LRG_287:g.147623C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.815C>T ENSP00000434560.2:p.Thr272Ile
ENST00000646564.2:c.632C>T ENSP00000495806.2:p.Thr211Ile
ENST00000155840.12:c.1172C>T MANE Select ENSP00000155840.2:p.Thr391Ile
ENST00000335475.6:c.791C>T ENSP00000334497.5:p.Thr264Ile
ENST00000646564.1:c.278C>T ENSP00000495806.1:p.Thr93Ile
ENST00000155840.9:c.1172C>T ENSP00000155840.2:p.Thr391Ile
ENST00000335475.5:c.791C>T ENSP00000334497.5:p.Thr264Ile
NM_000218.2:c.1172C>T , LRG_287t1:c.1172C>T NP_000209.2:p.Thr391Ile
NM_181798.1:c.791C>T , LRG_287t2:c.791C>T NP_861463.1:p.Thr264Ile
NM_000218.3:c.1172C>T MANE Select NP_000209.2:p.Thr391Ile
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