Canonical Allele Identifier: CA005101

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200838
• ClinVar RCV Id: RCV000182165 ; RCV000845364
• dbSNP Id: rs794728524
• MyVariant Identifiers: chr11:g.2606458G>T (hg19) ; chr11:g.2585228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585228G>T , CM000673.2:g.2585228G>T	GRCh38
NC_000011.9:g.2606458G>T , CM000673.1:g.2606458G>T	GRCh37
NC_000011.8:g.2563034G>T	NCBI36
NG_008935.1:g.145238G>T , LRG_287:g.145238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1683G>T	ENSP00000434560.2:n.771+1683G>T
ENST00000646564.2:c.588+1683G>T	ENSP00000495806.2:n.588+1683G>T
ENST00000155840.12:c.1049G>T MANE Select	ENSP00000155840.2:p.Gly350Val
ENST00000335475.6:c.668G>T	ENSP00000334497.5:p.Gly223Val
ENST00000646564.1:c.234+1683G>T	ENSP00000495806.1:n.234+1683G>T
ENST00000155840.9:c.1049G>T	ENSP00000155840.2:p.Gly350Val
ENST00000335475.5:c.668G>T	ENSP00000334497.5:p.Gly223Val
NM_000218.2:c.1049G>T , LRG_287t1:c.1049G>T	NP_000209.2:p.Gly350Val
NM_181798.1:c.668G>T , LRG_287t2:c.668G>T	NP_861463.1:p.Gly223Val
NM_000218.3:c.1049G>T MANE Select	NP_000209.2:p.Gly350Val