Canonical Allele Identifier: CA472416172
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445317-C-T
MyVariant Identifiers: chr11:g.2466547C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445317C>T , CM000673.2:g.2445317C>T GRCh38
NC_000011.9:g.2466547C>T , CM000673.1:g.2466547C>T GRCh37
NC_000011.8:g.2423123C>T NCBI36
NG_008935.1:g.5327C>T , LRG_287:g.5327C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-66C>T ENSP00000434560.2:n.24-66C>T
ENST00000646564.2:c.219C>T ENSP00000495806.2:p.Pro73=
ENST00000155840.12:c.219C>T MANE Select ENSP00000155840.2:p.Pro73=
ENST00000155840.9:c.219C>T ENSP00000155840.2:p.Pro73=
ENST00000496887.6:c.24-66C>T ENSP00000434560.1:n.24-66C>T
NM_000218.2:c.219C>T , LRG_287t1:c.219C>T NP_000209.2:p.Pro73=
NM_000218.3:c.219C>T MANE Select NP_000209.2:p.Pro73=
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