Canonical Allele Identifier: CA379134655

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 581004
• ClinVar RCV Id: RCV000704706
• dbSNP Id: rs199472770
• MyVariant Identifiers: chr11:g.2608809A>T (hg19) ; chr11:g.2587579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587579A>T , CM000673.2:g.2587579A>T	GRCh38
NC_000011.9:g.2608809A>T , CM000673.1:g.2608809A>T	GRCh37
NC_000011.8:g.2565385A>T	NCBI36
NG_008935.1:g.147589A>T , LRG_287:g.147589A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.781A>T	ENSP00000434560.2:p.Arg261Trp
ENST00000646564.2:c.598A>T	ENSP00000495806.2:p.Arg200Trp
ENST00000155840.12:c.1138A>T MANE Select	ENSP00000155840.2:p.Arg380Trp
ENST00000335475.6:c.757A>T	ENSP00000334497.5:p.Arg253Trp
ENST00000646564.1:c.244A>T	ENSP00000495806.1:p.Arg82Trp
ENST00000155840.9:c.1138A>T	ENSP00000155840.2:p.Arg380Trp
ENST00000335475.5:c.757A>T	ENSP00000334497.5:p.Arg253Trp
NM_000218.2:c.1138A>T , LRG_287t1:c.1138A>T	NP_000209.2:p.Arg380Trp
NM_181798.1:c.757A>T , LRG_287t2:c.757A>T	NP_861463.1:p.Arg253Trp
NM_000218.3:c.1138A>T MANE Select	NP_000209.2:p.Arg380Trp