Canonical Allele Identifier: CA037967

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 926412
• ClinVar RCV Id: RCV001571641 ; RCV002069055 ; RCV001841065 ; RCV004033389
• dbSNP Id: rs146981549
• ExAC: 11:2591863 C / T
• gnomAD v2: 11-2591863-C-T
• gnomAD v3: 11-2570633-C-T
• gnomAD v4: 11-2570633-C-T
• MyVariant Identifiers: chr11:g.2591863C>T (hg19) ; chr11:g.2570633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570633C>T , CM000673.2:g.2570633C>T	GRCh38
NC_000011.9:g.2591863C>T , CM000673.1:g.2591863C>T	GRCh37
NC_000011.8:g.2548439C>T	NCBI36
NG_008935.1:g.130643C>T , LRG_287:g.130643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.222C>T	ENSP00000434560.2:p.Ile74=
ENST00000646564.2:c.478-12802C>T	ENSP00000495806.2:n.478-12802C>T
ENST00000155840.12:c.483C>T MANE Select	ENSP00000155840.2:p.Ile161=
ENST00000335475.6:c.102C>T	ENSP00000334497.5:p.Ile34=
ENST00000646564.1:c.124-12802C>T	ENSP00000495806.1:n.124-12802C>T
ENST00000155840.9:c.483C>T	ENSP00000155840.2:p.Ile161=
ENST00000335475.5:c.102C>T	ENSP00000334497.5:p.Ile34=
ENST00000496887.6:c.222C>T	ENSP00000434560.1:p.Ile74=
NM_000218.2:c.483C>T , LRG_287t1:c.483C>T	NP_000209.2:p.Ile161=
NM_181798.1:c.102C>T , LRG_287t2:c.102C>T	NP_861463.1:p.Ile34=
NM_000218.3:c.483C>T MANE Select	NP_000209.2:p.Ile161=