Canonical Allele Identifier: CA10587722

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 264075
• ClinVar RCV Id: RCV000242306 ; RCV001321514
• dbSNP Id: rs886039033
• gnomAD v4: 11-2572865-A-T
• MyVariant Identifiers: chr11:g.2594095A>T (hg19) ; chr11:g.2572865A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572865A>T , CM000673.2:g.2572865A>T	GRCh38
NC_000011.9:g.2594095A>T , CM000673.1:g.2594095A>T	GRCh37
NC_000011.8:g.2550671A>T	NCBI36
NG_008935.1:g.132875A>T , LRG_287:g.132875A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.539A>T	ENSP00000434560.2:p.Tyr180Phe
ENST00000646564.2:c.478-10570A>T	ENSP00000495806.2:n.478-10570A>T
ENST00000155840.12:c.800A>T MANE Select	ENSP00000155840.2:p.Tyr267Phe
ENST00000335475.6:c.419A>T	ENSP00000334497.5:p.Tyr140Phe
ENST00000646564.1:c.124-10570A>T	ENSP00000495806.1:n.124-10570A>T
ENST00000155840.9:c.800A>T	ENSP00000155840.2:p.Tyr267Phe
ENST00000335475.5:c.419A>T	ENSP00000334497.5:p.Tyr140Phe
ENST00000496887.6:c.539A>T	ENSP00000434560.1:p.Tyr180Phe
NM_000218.2:c.800A>T , LRG_287t1:c.800A>T	NP_000209.2:p.Tyr267Phe
NM_181798.1:c.419A>T , LRG_287t2:c.419A>T	NP_861463.1:p.Tyr140Phe
NM_000218.3:c.800A>T MANE Select	NP_000209.2:p.Tyr267Phe