Canonical Allele Identifier: CA379133063

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 835945
• ClinVar RCV Id: RCV001036950
• dbSNP Id: rs1848536656
• MyVariant Identifiers: chr11:g.2604735G>A (hg19) ; chr11:g.2583505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583505G>A , CM000673.2:g.2583505G>A	GRCh38
NC_000011.9:g.2604735G>A , CM000673.1:g.2604735G>A	GRCh37
NC_000011.8:g.2561311G>A	NCBI36
NG_008935.1:g.143515G>A , LRG_287:g.143515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.731G>A	ENSP00000434560.2:p.Cys244Tyr
ENST00000646564.2:c.548G>A	ENSP00000495806.2:p.Cys183Tyr
ENST00000155840.12:c.992G>A MANE Select	ENSP00000155840.2:p.Cys331Tyr
ENST00000335475.6:c.611G>A	ENSP00000334497.5:p.Cys204Tyr
ENST00000646564.1:c.194G>A	ENSP00000495806.1:p.Cys65Tyr
ENST00000155840.9:c.992G>A	ENSP00000155840.2:p.Cys331Tyr
ENST00000335475.5:c.611G>A	ENSP00000334497.5:p.Cys204Tyr
NM_000218.2:c.992G>A , LRG_287t1:c.992G>A	NP_000209.2:p.Cys331Tyr
NM_181798.1:c.611G>A , LRG_287t2:c.611G>A	NP_861463.1:p.Cys204Tyr
NM_000218.3:c.992G>A MANE Select	NP_000209.2:p.Cys331Tyr