Canonical Allele Identifier: CA007935

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53088
• ClinVar RCV Id: RCV000046108 ; RCV000057735 ; RCV001841651
• dbSNP Id: rs199472710
• MyVariant Identifiers: chr11:g.2593263T>A (hg19) ; chr11:g.2572033T>A (hg38)
• PubMed: PMID:15466642 ; PMID:15840476 ; PMID:19590188 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572033T>A , CM000673.2:g.2572033T>A	GRCh38
NC_000011.9:g.2593263T>A , CM000673.1:g.2593263T>A	GRCh37
NC_000011.8:g.2549839T>A	NCBI36
NG_008935.1:g.132043T>A , LRG_287:g.132043T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.443T>A	ENSP00000434560.2:p.Ile148Asn
ENST00000646564.2:c.478-11402T>A	ENSP00000495806.2:n.478-11402T>A
ENST00000155840.12:c.704T>A MANE Select	ENSP00000155840.2:p.Ile235Asn
ENST00000335475.6:c.323T>A	ENSP00000334497.5:p.Ile108Asn
ENST00000646564.1:c.124-11402T>A	ENSP00000495806.1:n.124-11402T>A
ENST00000155840.9:c.704T>A	ENSP00000155840.2:p.Ile235Asn
ENST00000335475.5:c.323T>A	ENSP00000334497.5:p.Ile108Asn
ENST00000496887.6:c.443T>A	ENSP00000434560.1:p.Ile148Asn
NM_000218.2:c.704T>A , LRG_287t1:c.704T>A	NP_000209.2:p.Ile235Asn
NM_181798.1:c.323T>A , LRG_287t2:c.323T>A	NP_861463.1:p.Ile108Asn
NM_000218.3:c.704T>A MANE Select	NP_000209.2:p.Ile235Asn