Canonical Allele Identifier: CA5822081

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 919123
• ClinVar RCV Id: RCV001842673 ; RCV002375064 ; RCV002491504 ; RCV003769893
• dbSNP Id: rs1351149628
• ExAC: 11:2608909 A / G
• gnomAD v2: 11-2608909-A-G
• gnomAD v3: 11-2587679-A-G
• gnomAD v4: 11-2587679-A-G
• MyVariant Identifiers: chr11:g.2608909A>G (hg19) ; chr11:g.2608909_2608910delinsGG (hg19) ; chr11:g.2587679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587679A>G , CM000673.2:g.2587679A>G	GRCh38
NC_000011.9:g.2608909A>G , CM000673.1:g.2608909A>G	GRCh37
NC_000011.8:g.2565485A>G	NCBI36
NG_008935.1:g.147689A>G , LRG_287:g.147689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.881A>G	ENSP00000434560.2:p.Lys294Arg
ENST00000646564.2:c.698A>G	ENSP00000495806.2:p.Lys233Arg
ENST00000155840.12:c.1238A>G MANE Select	ENSP00000155840.2:p.Lys413Arg
ENST00000335475.6:c.857A>G	ENSP00000334497.5:p.Lys286Arg
ENST00000646564.1:c.344A>G	ENSP00000495806.1:p.Lys115Arg
ENST00000155840.9:c.1238A>G	ENSP00000155840.2:p.Lys413Arg
ENST00000335475.5:c.857A>G	ENSP00000334497.5:p.Lys286Arg
NM_000218.2:c.1238A>G , LRG_287t1:c.1238A>G	NP_000209.2:p.Lys413Arg
NM_181798.1:c.857A>G , LRG_287t2:c.857A>G	NP_861463.1:p.Lys286Arg
NM_000218.3:c.1238A>G MANE Select	NP_000209.2:p.Lys413Arg