Canonical Allele Identifier: CA379121912

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1312672
• ClinVar RCV Id: RCV001763678
• dbSNP Id: rs199472689
• MyVariant Identifiers: chr11:g.2549211A>T (hg19) ; chr11:g.2527981A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527981A>T , CM000673.2:g.2527981A>T	GRCh38
NC_000011.9:g.2549211A>T , CM000673.1:g.2549211A>T	GRCh37
NC_000011.8:g.2505787A>T	NCBI36
NG_008935.1:g.87991A>T , LRG_287:g.87991A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.179A>T	ENSP00000434560.2:p.Gln60Leu
ENST00000646564.2:c.440A>T	ENSP00000495806.2:p.Gln147Leu
ENST00000155840.12:c.440A>T MANE Select	ENSP00000155840.2:p.Gln147Leu
ENST00000335475.6:c.59A>T	ENSP00000334497.5:p.Gln20Leu
ENST00000646564.1:c.86A>T	ENSP00000495806.1:p.Gln29Leu
ENST00000155840.9:c.440A>T	ENSP00000155840.2:p.Gln147Leu
ENST00000335475.5:c.59A>T	ENSP00000334497.5:p.Gln20Leu
ENST00000496887.6:c.179A>T	ENSP00000434560.1:p.Gln60Leu
NM_000218.2:c.440A>T , LRG_287t1:c.440A>T	NP_000209.2:p.Gln147Leu
NM_181798.1:c.59A>T , LRG_287t2:c.59A>T	NP_861463.1:p.Gln20Leu
NM_000218.3:c.440A>T MANE Select	NP_000209.2:p.Gln147Leu