Canonical Allele Identifier: CA379131020

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1004846
• ClinVar RCV Id: RCV001301619
• dbSNP Id: rs199472716
• MyVariant Identifiers: chr11:g.2593311T>A (hg19) ; chr11:g.2572081T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572081T>A , CM000673.2:g.2572081T>A	GRCh38
NC_000011.9:g.2593311T>A , CM000673.1:g.2593311T>A	GRCh37
NC_000011.8:g.2549887T>A	NCBI36
NG_008935.1:g.132091T>A , LRG_287:g.132091T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.491T>A	ENSP00000434560.2:p.Leu164Gln
ENST00000646564.2:c.478-11354T>A	ENSP00000495806.2:n.478-11354T>A
ENST00000155840.12:c.752T>A MANE Select	ENSP00000155840.2:p.Leu251Gln
ENST00000335475.6:c.371T>A	ENSP00000334497.5:p.Leu124Gln
ENST00000646564.1:c.124-11354T>A	ENSP00000495806.1:n.124-11354T>A
ENST00000155840.9:c.752T>A	ENSP00000155840.2:p.Leu251Gln
ENST00000335475.5:c.371T>A	ENSP00000334497.5:p.Leu124Gln
ENST00000496887.6:c.491T>A	ENSP00000434560.1:p.Leu164Gln
NM_000218.2:c.752T>A , LRG_287t1:c.752T>A	NP_000209.2:p.Leu251Gln
NM_181798.1:c.371T>A , LRG_287t2:c.371T>A	NP_861463.1:p.Leu124Gln
NM_000218.3:c.752T>A MANE Select	NP_000209.2:p.Leu251Gln