Canonical Allele Identifier: CA379131000

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848344775
• gnomAD v4: 11-2572069-C-T
• MyVariant Identifiers: chr11:g.2593299C>T (hg19) ; chr11:g.2572069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572069C>T , CM000673.2:g.2572069C>T	GRCh38
NC_000011.9:g.2593299C>T , CM000673.1:g.2593299C>T	GRCh37
NC_000011.8:g.2549875C>T	NCBI36
NG_008935.1:g.132079C>T , LRG_287:g.132079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.479C>T	ENSP00000434560.2:p.Thr160Ile
ENST00000646564.2:c.478-11366C>T	ENSP00000495806.2:n.478-11366C>T
ENST00000155840.12:c.740C>T MANE Select	ENSP00000155840.2:p.Thr247Ile
ENST00000335475.6:c.359C>T	ENSP00000334497.5:p.Thr120Ile
ENST00000646564.1:c.124-11366C>T	ENSP00000495806.1:n.124-11366C>T
ENST00000155840.9:c.740C>T	ENSP00000155840.2:p.Thr247Ile
ENST00000335475.5:c.359C>T	ENSP00000334497.5:p.Thr120Ile
ENST00000496887.6:c.479C>T	ENSP00000434560.1:p.Thr160Ile
NM_000218.2:c.740C>T , LRG_287t1:c.740C>T	NP_000209.2:p.Thr247Ile
NM_181798.1:c.359C>T , LRG_287t2:c.359C>T	NP_861463.1:p.Thr120Ile
NM_000218.3:c.740C>T MANE Select	NP_000209.2:p.Thr247Ile