Canonical Allele Identifier: CA006336

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200856
• ClinVar RCV Id: RCV000182222 ; RCV000234786 ; RCV002516854
• dbSNP Id: rs794728536
• MyVariant Identifiers: chr11:g.2799235A>T (hg19) ; chr11:g.2778005A>T (hg38)
• PubMed: PMID:27041150 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778005A>T , CM000673.2:g.2778005A>T	GRCh38
NC_000011.9:g.2799235A>T , CM000673.1:g.2799235A>T	GRCh37
NC_000011.8:g.2755811A>T	NCBI36
NG_008935.1:g.338015A>T , LRG_287:g.338015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1405A>T	ENSP00000434560.2:p.Ile469Phe
ENST00000646564.2:c.1222A>T	ENSP00000495806.2:p.Ile408Phe
ENST00000155840.12:c.1762A>T MANE Select	ENSP00000155840.2:p.Ile588Phe
ENST00000335475.6:c.1381A>T	ENSP00000334497.5:p.Ile461Phe
ENST00000526095.2:c.166A>T	ENSP00000494939.1:p.Ile56Phe
ENST00000646564.1:c.868A>T	ENSP00000495806.1:p.Ile290Phe
ENST00000155840.9:c.1762A>T	ENSP00000155840.2:p.Ile588Phe
ENST00000335475.5:c.1381A>T	ENSP00000334497.5:p.Ile461Phe
ENST00000526095.1:n.269A>T
NM_000218.2:c.1762A>T , LRG_287t1:c.1762A>T	NP_000209.2:p.Ile588Phe
NM_181798.1:c.1381A>T , LRG_287t2:c.1381A>T	NP_861463.1:p.Ile461Phe
NM_000218.3:c.1762A>T MANE Select	NP_000209.2:p.Ile588Phe