Canonical Allele Identifier: CA007072

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67073
• ClinVar RCV Id: RCV000057675 ; RCV000463475 ; RCV000489920 ; RCV000618499
• dbSNP Id: rs199473451
• gnomAD v4: 11-2527971-A-G
• MyVariant Identifiers: chr11:g.2549201A>G (hg19) ; chr11:g.2527971A>G (hg38)
• PubMed: PMID:14678125 ; PMID:17224687 ; PMID:17470695 ; PMID:19716085 ; PMID:22581653 ; PMID:23271449

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527971A>G , CM000673.2:g.2527971A>G	GRCh38
NC_000011.9:g.2549201A>G , CM000673.1:g.2549201A>G	GRCh37
NC_000011.8:g.2505777A>G	NCBI36
NG_008935.1:g.87981A>G , LRG_287:g.87981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.227A>G
ENST00000496887.7:c.169A>G	ENSP00000434560.2:p.Thr57Ala
ENST00000646564.2:c.430A>G	ENSP00000495806.2:p.Thr144Ala
ENST00000155840.12:c.430A>G MANE Select	ENSP00000155840.2:p.Thr144Ala
ENST00000335475.6:c.49A>G	ENSP00000334497.5:p.Thr17Ala
ENST00000646564.1:c.76A>G	ENSP00000495806.1:p.Thr26Ala
ENST00000155840.9:c.430A>G	ENSP00000155840.2:p.Thr144Ala
ENST00000335475.5:c.49A>G	ENSP00000334497.5:p.Thr17Ala
ENST00000345015.4:n.299A>G
ENST00000380776.4:c.220A>G	ENSP00000370153.4:p.Thr74Ala
ENST00000496887.6:c.169A>G	ENSP00000434560.1:p.Thr57Ala
NM_000218.2:c.430A>G , LRG_287t1:c.430A>G	NP_000209.2:p.Thr144Ala
NM_181798.1:c.49A>G , LRG_287t2:c.49A>G	NP_861463.1:p.Thr17Ala
NM_000218.3:c.430A>G MANE Select	NP_000209.2:p.Thr144Ala