Canonical Allele Identifier: CA472459460

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3230633
• ClinVar RCV Id: RCV004520784
• gnomAD v4: 11-2768886-C-T
• MyVariant Identifiers: chr11:g.2790116C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768886C>T , CM000673.2:g.2768886C>T	GRCh38
NC_000011.9:g.2790116C>T , CM000673.1:g.2790116C>T	GRCh37
NC_000011.8:g.2746692C>T	NCBI36
NG_008935.1:g.328896C>T , LRG_287:g.328896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1200C>T	ENSP00000434560.2:p.Arg400=
ENST00000646564.2:c.1017C>T	ENSP00000495806.2:p.Arg339=
ENST00000155840.12:c.1557C>T MANE Select	ENSP00000155840.2:p.Arg519=
ENST00000335475.6:c.1176C>T	ENSP00000334497.5:p.Arg392=
ENST00000646564.1:c.663C>T	ENSP00000495806.1:p.Arg221=
ENST00000155840.9:c.1557C>T	ENSP00000155840.2:p.Arg519=
ENST00000335475.5:c.1176C>T	ENSP00000334497.5:p.Arg392=
NM_000218.2:c.1557C>T , LRG_287t1:c.1557C>T	NP_000209.2:p.Arg519=
NM_181798.1:c.1176C>T , LRG_287t2:c.1176C>T	NP_861463.1:p.Arg392=
NM_000218.3:c.1557C>T MANE Select	NP_000209.2:p.Arg519=