Canonical Allele Identifier: CA16606299

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 393006
• ClinVar RCV Id: RCV000442048 ; RCV001205787 ; RCV002418339
• dbSNP Id: rs199473460
• MyVariant Identifiers: chr11:g.2594092T>G (hg19) ; chr11:g.2572862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572862T>G , CM000673.2:g.2572862T>G	GRCh38
NC_000011.9:g.2594092T>G , CM000673.1:g.2594092T>G	GRCh37
NC_000011.8:g.2550668T>G	NCBI36
NG_008935.1:g.132872T>G , LRG_287:g.132872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.536T>G	ENSP00000434560.2:p.Leu179Arg
ENST00000646564.2:c.478-10573T>G	ENSP00000495806.2:n.478-10573T>G
ENST00000155840.12:c.797T>G MANE Select	ENSP00000155840.2:p.Leu266Arg
ENST00000335475.6:c.416T>G	ENSP00000334497.5:p.Leu139Arg
ENST00000646564.1:c.124-10573T>G	ENSP00000495806.1:n.124-10573T>G
ENST00000155840.9:c.797T>G	ENSP00000155840.2:p.Leu266Arg
ENST00000335475.5:c.416T>G	ENSP00000334497.5:p.Leu139Arg
ENST00000496887.6:c.536T>G	ENSP00000434560.1:p.Leu179Arg
NM_000218.2:c.797T>G , LRG_287t1:c.797T>G	NP_000209.2:p.Leu266Arg
NM_181798.1:c.416T>G , LRG_287t2:c.416T>G	NP_861463.1:p.Leu139Arg
NM_000218.3:c.797T>G MANE Select	NP_000209.2:p.Leu266Arg