Canonical Allele Identifier: CA472459424

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1199625
• ClinVar RCV Id: RCV001564351 ; RCV001842160
• dbSNP Id: rs2133980949
• MyVariant Identifiers: chr11:g.2790080G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768850G>A , CM000673.2:g.2768850G>A	GRCh38
NC_000011.9:g.2790080G>A , CM000673.1:g.2790080G>A	GRCh37
NC_000011.8:g.2746656G>A	NCBI36
NG_008935.1:g.328860G>A , LRG_287:g.328860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1164G>A	ENSP00000434560.2:p.Arg388=
ENST00000646564.2:c.981G>A	ENSP00000495806.2:p.Arg327=
ENST00000155840.12:c.1521G>A MANE Select	ENSP00000155840.2:p.Arg507=
ENST00000335475.6:c.1140G>A	ENSP00000334497.5:p.Arg380=
ENST00000646564.1:c.627G>A	ENSP00000495806.1:p.Arg209=
ENST00000155840.9:c.1521G>A	ENSP00000155840.2:p.Arg507=
ENST00000335475.5:c.1140G>A	ENSP00000334497.5:p.Arg380=
NM_000218.2:c.1521G>A , LRG_287t1:c.1521G>A	NP_000209.2:p.Arg507=
NM_181798.1:c.1140G>A , LRG_287t2:c.1140G>A	NP_861463.1:p.Arg380=
NM_000218.3:c.1521G>A MANE Select	NP_000209.2:p.Arg507=