Canonical Allele Identifier: CA008840

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200826
• ClinVar RCV Id: RCV000182140
• dbSNP Id: rs104894255
• MyVariant Identifiers: chr11:g.2604689G>T (hg19) ; chr11:g.2583459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583459G>T , CM000673.2:g.2583459G>T	GRCh38
NC_000011.9:g.2604689G>T , CM000673.1:g.2604689G>T	GRCh37
NC_000011.8:g.2561265G>T	NCBI36
NG_008935.1:g.143469G>T , LRG_287:g.143469G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.685G>T	ENSP00000434560.2:p.Gly229Trp
ENST00000646564.2:c.502G>T	ENSP00000495806.2:p.Gly168Trp
ENST00000155840.12:c.946G>T MANE Select	ENSP00000155840.2:p.Gly316Trp
ENST00000335475.6:c.565G>T	ENSP00000334497.5:p.Gly189Trp
ENST00000646564.1:c.148G>T	ENSP00000495806.1:p.Gly50Trp
ENST00000155840.9:c.946G>T	ENSP00000155840.2:p.Gly316Trp
ENST00000335475.5:c.565G>T	ENSP00000334497.5:p.Gly189Trp
NM_000218.2:c.946G>T , LRG_287t1:c.946G>T	NP_000209.2:p.Gly316Trp
NM_181798.1:c.565G>T , LRG_287t2:c.565G>T	NP_861463.1:p.Gly189Trp
NM_000218.3:c.946G>T MANE Select	NP_000209.2:p.Gly316Trp