Canonical Allele Identifier: CA007364

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3113
• ClinVar RCV Id: RCV000003260 ; RCV000057693
• dbSNP Id: rs120074177
• MyVariant Identifiers: chr11:g.2591912G>C (hg19) ; chr11:g.2570682G>C (hg38)
• PubMed: PMID:8528244 ; PMID:9323054 ; PMID:14678125 ; PMID:17470695 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570682G>C , CM000673.2:g.2570682G>C	GRCh38
NC_000011.9:g.2591912G>C , CM000673.1:g.2591912G>C	GRCh37
NC_000011.8:g.2548488G>C	NCBI36
NG_008935.1:g.130692G>C , LRG_287:g.130692G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.271G>C	ENSP00000434560.2:p.Ala91Pro
ENST00000646564.2:c.478-12753G>C	ENSP00000495806.2:n.478-12753G>C
ENST00000155840.12:c.532G>C MANE Select	ENSP00000155840.2:p.Ala178Pro
ENST00000335475.6:c.151G>C	ENSP00000334497.5:p.Ala51Pro
ENST00000646564.1:c.124-12753G>C	ENSP00000495806.1:n.124-12753G>C
ENST00000155840.9:c.532G>C	ENSP00000155840.2:p.Ala178Pro
ENST00000335475.5:c.151G>C	ENSP00000334497.5:p.Ala51Pro
ENST00000496887.6:c.271G>C	ENSP00000434560.1:p.Ala91Pro
NM_000218.2:c.532G>C , LRG_287t1:c.532G>C	NP_000209.2:p.Ala178Pro
NM_181798.1:c.151G>C , LRG_287t2:c.151G>C	NP_861463.1:p.Ala51Pro
NM_000218.3:c.532G>C MANE Select	NP_000209.2:p.Ala178Pro