Canonical Allele Identifier: CA004792

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67003
• ClinVar RCV Id: RCV000057522
• dbSNP Id: rs199472757
• MyVariant Identifiers: chr11:g.2604746T>C (hg19) ; chr11:g.2583516T>C (hg38)
• PubMed: PMID:14661677 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583516T>C , CM000673.2:g.2583516T>C	GRCh38
NC_000011.9:g.2604746T>C , CM000673.1:g.2604746T>C	GRCh37
NC_000011.8:g.2561322T>C	NCBI36
NG_008935.1:g.143526T>C , LRG_287:g.143526T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.742T>C	ENSP00000434560.2:p.Phe248Leu
ENST00000646564.2:c.559T>C	ENSP00000495806.2:p.Phe187Leu
ENST00000155840.12:c.1003T>C MANE Select	ENSP00000155840.2:p.Phe335Leu
ENST00000335475.6:c.622T>C	ENSP00000334497.5:p.Phe208Leu
ENST00000646564.1:c.205T>C	ENSP00000495806.1:p.Phe69Leu
ENST00000155840.9:c.1003T>C	ENSP00000155840.2:p.Phe335Leu
ENST00000335475.5:c.622T>C	ENSP00000334497.5:p.Phe208Leu
NM_000218.2:c.1003T>C , LRG_287t1:c.1003T>C	NP_000209.2:p.Phe335Leu
NM_181798.1:c.622T>C , LRG_287t2:c.622T>C	NP_861463.1:p.Phe208Leu
NM_000218.3:c.1003T>C MANE Select	NP_000209.2:p.Phe335Leu