Canonical Allele Identifier: CA005930

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52993
• ClinVar RCV Id: RCV000045999 ; RCV000057597 ; RCV000182199 ; RCV000621710
• dbSNP Id: rs199473479
• MyVariant Identifiers: chr11:g.2790118T>G (hg19) ; chr11:g.2768888T>G (hg38)
• PubMed: PMID:17470695 ; PMID:17482572 ; PMID:19716085 ; PMID:19841300 ; PMID:22456477 ; PMID:22581653 ; PMID:22949429

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768888T>G , CM000673.2:g.2768888T>G	GRCh38
NC_000011.9:g.2790118T>G , CM000673.1:g.2790118T>G	GRCh37
NC_000011.8:g.2746694T>G	NCBI36
NG_008935.1:g.328898T>G , LRG_287:g.328898T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1202T>G	ENSP00000434560.2:p.Met401Arg
ENST00000646564.2:c.1019T>G	ENSP00000495806.2:p.Met340Arg
ENST00000155840.12:c.1559T>G MANE Select	ENSP00000155840.2:p.Met520Arg
ENST00000335475.6:c.1178T>G	ENSP00000334497.5:p.Met393Arg
ENST00000646564.1:c.665T>G	ENSP00000495806.1:p.Met222Arg
ENST00000155840.9:c.1559T>G	ENSP00000155840.2:p.Met520Arg
ENST00000335475.5:c.1178T>G	ENSP00000334497.5:p.Met393Arg
NM_000218.2:c.1559T>G , LRG_287t1:c.1559T>G	NP_000209.2:p.Met520Arg
NM_181798.1:c.1178T>G , LRG_287t2:c.1178T>G	NP_861463.1:p.Met393Arg
NM_000218.3:c.1559T>G MANE Select	NP_000209.2:p.Met520Arg