Canonical Allele Identifier: CA472465634

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1516466
• ClinVar RCV Id: RCV002026617
• dbSNP Id: rs794728537
• gnomAD v4: 11-2778023-C-A
• MyVariant Identifiers: chr11:g.2799253C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778023C>A , CM000673.2:g.2778023C>A	GRCh38
NC_000011.9:g.2799253C>A , CM000673.1:g.2799253C>A	GRCh37
NC_000011.8:g.2755829C>A	NCBI36
NG_008935.1:g.338033C>A , LRG_287:g.338033C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1423C>A	ENSP00000434560.2:p.Arg475=
ENST00000646564.2:c.1240C>A	ENSP00000495806.2:p.Arg414=
ENST00000155840.12:c.1780C>A MANE Select	ENSP00000155840.2:p.Arg594=
ENST00000335475.6:c.1399C>A	ENSP00000334497.5:p.Arg467=
ENST00000526095.2:c.184C>A	ENSP00000494939.1:p.Arg62=
ENST00000646564.1:c.886C>A	ENSP00000495806.1:p.Arg296=
ENST00000155840.9:c.1780C>A	ENSP00000155840.2:p.Arg594=
ENST00000335475.5:c.1399C>A	ENSP00000334497.5:p.Arg467=
ENST00000526095.1:n.287C>A
NM_000218.2:c.1780C>A , LRG_287t1:c.1780C>A	NP_000209.2:p.Arg594=
NM_181798.1:c.1399C>A , LRG_287t2:c.1399C>A	NP_861463.1:p.Arg467=
NM_000218.3:c.1780C>A MANE Select	NP_000209.2:p.Arg594=