Canonical Allele Identifier: CA007996

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67099
• ClinVar RCV Id: RCV000057739 ; RCV000182104 ; RCV000476524
• dbSNP Id: rs199472712
• gnomAD v4: 11-2572053-G-T
• MyVariant Identifiers: chr11:g.2593283G>T (hg19) ; chr11:g.2572053G>T (hg38)
• PubMed: PMID:19490272 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572053G>T , CM000673.2:g.2572053G>T	GRCh38
NC_000011.9:g.2593283G>T , CM000673.1:g.2593283G>T	GRCh37
NC_000011.8:g.2549859G>T	NCBI36
NG_008935.1:g.132063G>T , LRG_287:g.132063G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.463G>T	ENSP00000434560.2:p.Asp155Tyr
ENST00000646564.2:c.478-11382G>T	ENSP00000495806.2:n.478-11382G>T
ENST00000155840.12:c.724G>T MANE Select	ENSP00000155840.2:p.Asp242Tyr
ENST00000335475.6:c.343G>T	ENSP00000334497.5:p.Asp115Tyr
ENST00000646564.1:c.124-11382G>T	ENSP00000495806.1:n.124-11382G>T
ENST00000155840.9:c.724G>T	ENSP00000155840.2:p.Asp242Tyr
ENST00000335475.5:c.343G>T	ENSP00000334497.5:p.Asp115Tyr
ENST00000496887.6:c.463G>T	ENSP00000434560.1:p.Asp155Tyr
NM_000218.2:c.724G>T , LRG_287t1:c.724G>T	NP_000209.2:p.Asp242Tyr
NM_181798.1:c.343G>T , LRG_287t2:c.343G>T	NP_861463.1:p.Asp115Tyr
NM_000218.3:c.724G>T MANE Select	NP_000209.2:p.Asp242Tyr