Canonical Allele Identifier: CA006176

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67048
• ClinVar RCV Id: RCV000057616 ; RCV002513747
• dbSNP Id: rs199472802
• gnomAD v4: 11-2776054-G-T
• MyVariant Identifiers: chr11:g.2797284G>T (hg19) ; chr11:g.2776054G>T (hg38)
• PubMed: PMID:12566525 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776054G>T , CM000673.2:g.2776054G>T	GRCh38
NC_000011.9:g.2797284G>T , CM000673.1:g.2797284G>T	GRCh37
NC_000011.8:g.2753860G>T	NCBI36
NG_008935.1:g.336064G>T , LRG_287:g.336064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328G>T	ENSP00000434560.2:p.Arg443Met
ENST00000646564.2:c.1145G>T	ENSP00000495806.2:p.Arg382Met
ENST00000155840.12:c.1685G>T MANE Select	ENSP00000155840.2:p.Arg562Met
ENST00000335475.6:c.1304G>T	ENSP00000334497.5:p.Arg435Met
ENST00000646564.1:c.791G>T	ENSP00000495806.1:p.Arg264Met
ENST00000155840.9:c.1685G>T	ENSP00000155840.2:p.Arg562Met
ENST00000335475.5:c.1304G>T	ENSP00000334497.5:p.Arg435Met
NM_000218.2:c.1685G>T , LRG_287t1:c.1685G>T	NP_000209.2:p.Arg562Met
NM_181798.1:c.1304G>T , LRG_287t2:c.1304G>T	NP_861463.1:p.Arg435Met
NM_000218.3:c.1685G>T MANE Select	NP_000209.2:p.Arg562Met