Canonical Allele Identifier: CA379132974
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2604681T>A (hg19) chr11:g.2583451T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583451T>A , CM000673.2:g.2583451T>A GRCh38
NC_000011.9:g.2604681T>A , CM000673.1:g.2604681T>A GRCh37
NC_000011.8:g.2561257T>A NCBI36
NG_008935.1:g.143461T>A , LRG_287:g.143461T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.677T>A ENSP00000434560.2:p.Ile226Asn
ENST00000646564.2:c.494T>A ENSP00000495806.2:p.Ile165Asn
ENST00000155840.12:c.938T>A MANE Select ENSP00000155840.2:p.Ile313Asn
ENST00000335475.6:c.557T>A ENSP00000334497.5:p.Ile186Asn
ENST00000646564.1:c.140T>A ENSP00000495806.1:p.Ile47Asn
ENST00000155840.9:c.938T>A ENSP00000155840.2:p.Ile313Asn
ENST00000335475.5:c.557T>A ENSP00000334497.5:p.Ile186Asn
NM_000218.2:c.938T>A , LRG_287t1:c.938T>A NP_000209.2:p.Ile313Asn
NM_181798.1:c.557T>A , LRG_287t2:c.557T>A NP_861463.1:p.Ile186Asn
NM_000218.3:c.938T>A MANE Select NP_000209.2:p.Ile313Asn
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