Canonical Allele Identifier: CA037951

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1092180
• ClinVar RCV Id: RCV001411937 ; RCV001638086
• dbSNP Id: rs146981549
• ExAC: 11:2591863 C / A
• gnomAD v2: 11-2591863-C-A
• gnomAD v3: 11-2570633-C-A
• gnomAD v4: 11-2570633-C-A
• MyVariant Identifiers: chr11:g.2591863C>A (hg19) ; chr11:g.2570633C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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