Canonical Allele Identifier: CA005994
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52998
dbSNP Id: rs199472795
gnomAD v2: 11-2797214-C-T
gnomAD v3: 11-2775984-C-T
gnomAD v4: 11-2775984-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2775984C>T , CM000673.2:g.2775984C>T GRCh38
NC_000011.9:g.2797214C>T , CM000673.1:g.2797214C>T GRCh37
NC_000011.8:g.2753790C>T NCBI36
NG_008935.1:g.335994C>T , LRG_287:g.335994C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1258C>T ENSP00000434560.2:p.Arg420Trp
ENST00000646564.2:c.1075C>T ENSP00000495806.2:p.Arg359Trp
ENST00000155840.12:c.1615C>T MANE Select ENSP00000155840.2:p.Arg539Trp
ENST00000335475.6:c.1234C>T ENSP00000334497.5:p.Arg412Trp
ENST00000646564.1:c.721C>T ENSP00000495806.1:p.Arg241Trp
ENST00000155840.9:c.1615C>T ENSP00000155840.2:p.Arg539Trp
ENST00000335475.5:c.1234C>T ENSP00000334497.5:p.Arg412Trp
NM_000218.2:c.1615C>T , LRG_287t1:c.1615C>T NP_000209.2:p.Arg539Trp
NM_181798.1:c.1234C>T , LRG_287t2:c.1234C>T NP_861463.1:p.Arg412Trp
NM_000218.3:c.1615C>T MANE Select NP_000209.2:p.Arg539Trp