Canonical Allele Identifier: CA005174

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52950
• ClinVar RCV Id: RCV000045954 ; RCV000223715 ; RCV001841622 ; RCV000617465 ; RCV002496699 ; RCV003319304
• dbSNP Id: rs397508075
• gnomAD v4: 11-2585254-C-T
• MyVariant Identifiers: chr11:g.2606484C>T (hg19) ; chr11:g.2585254C>T (hg38)
• PubMed: PMID:19716085 ; PMID:19841300 ; PMID:21956039 ; PMID:25294783

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585254C>T , CM000673.2:g.2585254C>T	GRCh38
NC_000011.9:g.2606484C>T , CM000673.1:g.2606484C>T	GRCh37
NC_000011.8:g.2563060C>T	NCBI36
NG_008935.1:g.145264C>T , LRG_287:g.145264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1709C>T	ENSP00000434560.2:n.771+1709C>T
ENST00000646564.2:c.588+1709C>T	ENSP00000495806.2:n.588+1709C>T
ENST00000155840.12:c.1075C>T MANE Select	ENSP00000155840.2:p.Gln359Ter
ENST00000335475.6:c.694C>T	ENSP00000334497.5:p.Gln232Ter
ENST00000646564.1:c.234+1709C>T	ENSP00000495806.1:n.234+1709C>T
ENST00000155840.9:c.1075C>T	ENSP00000155840.2:p.Gln359Ter
ENST00000335475.5:c.694C>T	ENSP00000334497.5:p.Gln232Ter
NM_000218.2:c.1075C>T , LRG_287t1:c.1075C>T	NP_000209.2:p.Gln359Ter
NM_181798.1:c.694C>T , LRG_287t2:c.694C>T	NP_861463.1:p.Gln232Ter
NM_000218.3:c.1075C>T MANE Select	NP_000209.2:p.Gln359Ter