Canonical Allele Identifier: CA006395

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53019
• ClinVar RCV Id: RCV000046032 ; RCV000057638 ; RCV000182324 ; RCV000620919
• dbSNP Id: rs199472815
• gnomAD v4: 11-2778024-G-C
• MyVariant Identifiers: chr11:g.2799254G>C (hg19) ; chr11:g.2778024G>C (hg38)
• PubMed: PMID:17224687 ; PMID:19716085 ; PMID:22581653 ; PMID:23392653 ; PMID:27332903

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778024G>C , CM000673.2:g.2778024G>C	GRCh38
NC_000011.9:g.2799254G>C , CM000673.1:g.2799254G>C	GRCh37
NC_000011.8:g.2755830G>C	NCBI36
NG_008935.1:g.338034G>C , LRG_287:g.338034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1424G>C	ENSP00000434560.2:p.Arg475Pro
ENST00000646564.2:c.1241G>C	ENSP00000495806.2:p.Arg414Pro
ENST00000155840.12:c.1781G>C MANE Select	ENSP00000155840.2:p.Arg594Pro
ENST00000335475.6:c.1400G>C	ENSP00000334497.5:p.Arg467Pro
ENST00000526095.2:c.185G>C	ENSP00000494939.1:p.Arg62Pro
ENST00000646564.1:c.887G>C	ENSP00000495806.1:p.Arg296Pro
ENST00000155840.9:c.1781G>C	ENSP00000155840.2:p.Arg594Pro
ENST00000335475.5:c.1400G>C	ENSP00000334497.5:p.Arg467Pro
ENST00000526095.1:n.288G>C
NM_000218.2:c.1781G>C , LRG_287t1:c.1781G>C	NP_000209.2:p.Arg594Pro
NM_181798.1:c.1400G>C , LRG_287t2:c.1400G>C	NP_861463.1:p.Arg467Pro
NM_000218.3:c.1781G>C MANE Select	NP_000209.2:p.Arg594Pro