Canonical Allele Identifier: CA007239
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200881
ClinVar RCV Id: RCV000182265
dbSNP Id: rs794728555
MyVariant Identifiers: chr11:g.2591879_2591881del (hg19) chr11:g.2570649_2570651del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570649_2570651del , CM000673.2:g.2570649_2570651del GRCh38
NC_000011.9:g.2591879_2591881del , CM000673.1:g.2591879_2591881del GRCh37
NC_000011.8:g.2548455_2548457del NCBI36
NG_008935.1:g.130659_130661del , LRG_287:g.130659_130661del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.238_240del ENSP00000434560.2:p.Phe80del
ENST00000646564.2:c.478-12786_478-12784del ENSP00000495806.2:n.478-12786_478-12784de...
ENST00000155840.12:c.499_501del MANE Select ENSP00000155840.2:p.Phe167del
ENST00000335475.6:c.118_120del ENSP00000334497.5:p.Phe40del
ENST00000646564.1:c.124-12786_124-12784del ENSP00000495806.1:n.124-12786_124-12784de...
ENST00000155840.9:c.499_501del ENSP00000155840.2:p.Phe167del
ENST00000335475.5:c.118_120del ENSP00000334497.5:p.Phe40del
ENST00000496887.6:c.238_240del ENSP00000434560.1:p.Phe80del
NM_000218.2:c.499_501del , LRG_287t1:c.499_501del NP_000209.2:p.Phe167del
NM_181798.1:c.118_120del , LRG_287t2:c.118_120del NP_861463.1:p.Phe40del
NM_000218.3:c.499_501del MANE Select NP_000209.2:p.Phe167del
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