Canonical Allele Identifier: CA007045

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67072
• ClinVar RCV Id: RCV000057674 ; RCV000494365 ; RCV000417071 ; RCV000468931 ; RCV000621525
• dbSNP Id: rs199472687
• MyVariant Identifiers: chr11:g.2549192G>A (hg19) ; chr11:g.2527962G>A (hg38)
• PubMed: PMID:16109388 ; PMID:17999538 ; PMID:18599533 ; PMID:22250012 ; PMID:22581653 ; PMID:23375927 ; PMID:24818999 ; PMID:25974115

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527962G>A , CM000673.2:g.2527962G>A	GRCh38
NC_000011.9:g.2549192G>A , CM000673.1:g.2549192G>A	GRCh37
NC_000011.8:g.2505768G>A	NCBI36
NG_008935.1:g.87972G>A , LRG_287:g.87972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.218G>A
ENST00000496887.7:c.160G>A	ENSP00000434560.2:p.Val54Met
ENST00000646564.2:c.421G>A	ENSP00000495806.2:p.Val141Met
ENST00000155840.12:c.421G>A MANE Select	ENSP00000155840.2:p.Val141Met
ENST00000335475.6:c.40G>A	ENSP00000334497.5:p.Val14Met
ENST00000646564.1:c.67G>A	ENSP00000495806.1:p.Val23Met
ENST00000155840.9:c.421G>A	ENSP00000155840.2:p.Val141Met
ENST00000335475.5:c.40G>A	ENSP00000334497.5:p.Val14Met
ENST00000345015.4:n.290G>A
ENST00000380776.4:c.211G>A	ENSP00000370153.4:p.Val71Met
ENST00000496887.6:c.160G>A	ENSP00000434560.1:p.Val54Met
NM_000218.2:c.421G>A , LRG_287t1:c.421G>A	NP_000209.2:p.Val141Met
NM_181798.1:c.40G>A , LRG_287t2:c.40G>A	NP_861463.1:p.Val14Met
NM_000218.3:c.421G>A MANE Select	NP_000209.2:p.Val141Met