Canonical Allele Identifier: CA10575754

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 207973
• ClinVar RCV Id: RCV000234808 ; RCV000456381 ; RCV000621754 ; RCV000786150
• dbSNP Id: rs878854350
• gnomAD v4: 11-2776984-A-G
• MyVariant Identifiers: chr11:g.2798214A>G (hg19) ; chr11:g.2776984A>G (hg38)
• PubMed: PMID:27041150 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776984A>G , CM000673.2:g.2776984A>G	GRCh38
NC_000011.9:g.2798214A>G , CM000673.1:g.2798214A>G	GRCh37
NC_000011.8:g.2754790A>G	NCBI36
NG_008935.1:g.336994A>G , LRG_287:g.336994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1329-2A>G	ENSP00000434560.2:n.1329-2A>G
ENST00000646564.2:c.1146-2A>G	ENSP00000495806.2:n.1146-2A>G
ENST00000155840.12:c.1686-2A>G MANE Select	ENSP00000155840.2:n.1686-2A>G
ENST00000335475.6:c.1305-2A>G	ENSP00000334497.5:n.1305-2A>G
ENST00000646564.1:c.792-2A>G	ENSP00000495806.1:n.792-2A>G
ENST00000155840.9:c.1686-2A>G	ENSP00000155840.2:n.1686-2A>G
ENST00000335475.5:c.1305-2A>G	ENSP00000334497.5:n.1305-2A>G
NM_000218.2:c.1686-2A>G , LRG_287t1:c.1686-2A>G	NP_000209.2:n.1686-2A>G
NM_181798.1:c.1305-2A>G , LRG_287t2:c.1305-2A>G	NP_861463.1:n.1305-2A>G
NM_000218.3:c.1686-2A>G MANE Select	NP_000209.2:n.1686-2A>G