Canonical Allele Identifier: CA008869

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53145
• ClinVar RCV Id: RCV000057822 ; RCV000182310 ; RCV000586037 ; RCV001389796
• dbSNP Id: rs199472751
• MyVariant Identifiers: chr11:g.2604692G>A (hg19) ; chr11:g.2583462G>A (hg38)
• PubMed: PMID:9302275 ; PMID:9482580 ; PMID:10483966 ; PMID:12702160 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583462G>A , CM000673.2:g.2583462G>A	GRCh38
NC_000011.9:g.2604692G>A , CM000673.1:g.2604692G>A	GRCh37
NC_000011.8:g.2561268G>A	NCBI36
NG_008935.1:g.143472G>A , LRG_287:g.143472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.688G>A	ENSP00000434560.2:p.Asp230Asn
ENST00000646564.2:c.505G>A	ENSP00000495806.2:p.Asp169Asn
ENST00000155840.12:c.949G>A MANE Select	ENSP00000155840.2:p.Asp317Asn
ENST00000335475.6:c.568G>A	ENSP00000334497.5:p.Asp190Asn
ENST00000646564.1:c.151G>A	ENSP00000495806.1:p.Asp51Asn
ENST00000155840.9:c.949G>A	ENSP00000155840.2:p.Asp317Asn
ENST00000335475.5:c.568G>A	ENSP00000334497.5:p.Asp190Asn
NM_000218.2:c.949G>A , LRG_287t1:c.949G>A	NP_000209.2:p.Asp317Asn
NM_181798.1:c.568G>A , LRG_287t2:c.568G>A	NP_861463.1:p.Asp190Asn
NM_000218.3:c.949G>A MANE Select	NP_000209.2:p.Asp317Asn