Canonical Allele Identifier: CA007685

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67090
• ClinVar RCV Id: RCV000057716 ; RCV003227632
• dbSNP Id: rs199472701
• MyVariant Identifiers: chr11:g.2591975T>G (hg19) ; chr11:g.2570745T>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570745T>G , CM000673.2:g.2570745T>G	GRCh38
NC_000011.9:g.2591975T>G , CM000673.1:g.2591975T>G	GRCh37
NC_000011.8:g.2548551T>G	NCBI36
NG_008935.1:g.130755T>G , LRG_287:g.130755T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.334T>G	ENSP00000434560.2:p.Ser112Ala
ENST00000646564.2:c.478-12690T>G	ENSP00000495806.2:n.478-12690T>G
ENST00000155840.12:c.595T>G MANE Select	ENSP00000155840.2:p.Ser199Ala
ENST00000335475.6:c.214T>G	ENSP00000334497.5:p.Ser72Ala
ENST00000646564.1:c.124-12690T>G	ENSP00000495806.1:n.124-12690T>G
ENST00000155840.9:c.595T>G	ENSP00000155840.2:p.Ser199Ala
ENST00000335475.5:c.214T>G	ENSP00000334497.5:p.Ser72Ala
ENST00000496887.6:c.334T>G	ENSP00000434560.1:p.Ser112Ala
NM_000218.2:c.595T>G , LRG_287t1:c.595T>G	NP_000209.2:p.Ser199Ala
NM_181798.1:c.214T>G , LRG_287t2:c.214T>G	NP_861463.1:p.Ser72Ala
NM_000218.3:c.595T>G MANE Select	NP_000209.2:p.Ser199Ala