Canonical Allele Identifier: CA008803

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53139
• ClinVar RCV Id: RCV000057815 ; RCV001387949 ; RCV002371888 ; RCV003156223
• dbSNP Id: rs74462309
• MyVariant Identifiers: chr11:g.2604687A>C (hg19) ; chr11:g.2583457A>C (hg38)
• PubMed: PMID:9386136 ; PMID:10220144 ; PMID:12566525 ; PMID:17470695 ; PMID:18464931 ; PMID:20833965 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583457A>C , CM000673.2:g.2583457A>C	GRCh38
NC_000011.9:g.2604687A>C , CM000673.1:g.2604687A>C	GRCh37
NC_000011.8:g.2561263A>C	NCBI36
NG_008935.1:g.143467A>C , LRG_287:g.143467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.683A>C	ENSP00000434560.2:p.Tyr228Ser
ENST00000646564.2:c.500A>C	ENSP00000495806.2:p.Tyr167Ser
ENST00000155840.12:c.944A>C MANE Select	ENSP00000155840.2:p.Tyr315Ser
ENST00000335475.6:c.563A>C	ENSP00000334497.5:p.Tyr188Ser
ENST00000646564.1:c.146A>C	ENSP00000495806.1:p.Tyr49Ser
ENST00000155840.9:c.944A>C	ENSP00000155840.2:p.Tyr315Ser
ENST00000335475.5:c.563A>C	ENSP00000334497.5:p.Tyr188Ser
NM_000218.2:c.944A>C , LRG_287t1:c.944A>C	NP_000209.2:p.Tyr315Ser
NM_181798.1:c.563A>C , LRG_287t2:c.563A>C	NP_861463.1:p.Tyr188Ser
NM_000218.3:c.944A>C MANE Select	NP_000209.2:p.Tyr315Ser