Canonical Allele Identifier: CA379139273

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 403694
• ClinVar RCV Id: RCV000497356 ; RCV001856801
• dbSNP Id: rs1554920808
• MyVariant Identifiers: chr11:g.2798221A>G (hg19) ; chr11:g.2776991A>G (hg38)
• PubMed: PMID:29033053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776991A>G , CM000673.2:g.2776991A>G	GRCh38
NC_000011.9:g.2798221A>G , CM000673.1:g.2798221A>G	GRCh37
NC_000011.8:g.2754797A>G	NCBI36
NG_008935.1:g.337001A>G , LRG_287:g.337001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1334A>G	ENSP00000434560.2:p.Asp445Gly
ENST00000646564.2:c.1151A>G	ENSP00000495806.2:p.Asp384Gly
ENST00000155840.12:c.1691A>G MANE Select	ENSP00000155840.2:p.Asp564Gly
ENST00000335475.6:c.1310A>G	ENSP00000334497.5:p.Asp437Gly
ENST00000646564.1:c.797A>G	ENSP00000495806.1:p.Asp266Gly
ENST00000155840.9:c.1691A>G	ENSP00000155840.2:p.Asp564Gly
ENST00000335475.5:c.1310A>G	ENSP00000334497.5:p.Asp437Gly
NM_000218.2:c.1691A>G , LRG_287t1:c.1691A>G	NP_000209.2:p.Asp564Gly
NM_181798.1:c.1310A>G , LRG_287t2:c.1310A>G	NP_861463.1:p.Asp437Gly
NM_000218.3:c.1691A>G MANE Select	NP_000209.2:p.Asp564Gly