Canonical Allele Identifier: CA674982988
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1037534546
gnomAD v3: 11-2583401-C-T
gnomAD v4: 11-2583401-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583401C>T , CM000673.2:g.2583401C>T GRCh38
NC_000011.9:g.2604631C>T , CM000673.1:g.2604631C>T GRCh37
NC_000011.8:g.2561207C>T NCBI36
NG_008935.1:g.143411C>T , LRG_287:g.143411C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-34C>T ENSP00000434560.2:n.661-34C>T
ENST00000646564.2:c.478-34C>T ENSP00000495806.2:n.478-34C>T
ENST00000155840.12:c.922-34C>T MANE Select ENSP00000155840.2:n.922-34C>T
ENST00000335475.6:c.541-34C>T ENSP00000334497.5:n.541-34C>T
ENST00000646564.1:c.124-34C>T ENSP00000495806.1:n.124-34C>T
ENST00000155840.9:c.922-34C>T ENSP00000155840.2:n.922-34C>T
ENST00000335475.5:c.541-34C>T ENSP00000334497.5:n.541-34C>T
NM_000218.2:c.922-34C>T , LRG_287t1:c.922-34C>T NP_000209.2:n.922-34C>T
NM_181798.1:c.541-34C>T , LRG_287t2:c.541-34C>T NP_861463.1:n.541-34C>T
NM_000218.3:c.922-34C>T MANE Select NP_000209.2:n.922-34C>T