Canonical Allele Identifier: CA379132948

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 582668
• ClinVar RCV Id: RCV000706798
• dbSNP Id: rs397508133
• MyVariant Identifiers: chr11:g.2604663A>G (hg19) ; chr11:g.2583433A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583433A>G , CM000673.2:g.2583433A>G	GRCh38
NC_000011.9:g.2604663A>G , CM000673.1:g.2604663A>G	GRCh37
NC_000011.8:g.2561239A>G	NCBI36
NG_008935.1:g.143443A>G , LRG_287:g.143443A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-2A>G	ENSP00000434560.2:n.661-2A>G
ENST00000646564.2:c.478-2A>G	ENSP00000495806.2:n.478-2A>G
ENST00000155840.12:c.922-2A>G MANE Select	ENSP00000155840.2:n.922-2A>G
ENST00000335475.6:c.541-2A>G	ENSP00000334497.5:n.541-2A>G
ENST00000646564.1:c.124-2A>G	ENSP00000495806.1:n.124-2A>G
ENST00000155840.9:c.922-2A>G	ENSP00000155840.2:n.922-2A>G
ENST00000335475.5:c.541-2A>G	ENSP00000334497.5:n.541-2A>G
NM_000218.2:c.922-2A>G , LRG_287t1:c.922-2A>G	NP_000209.2:n.922-2A>G
NM_181798.1:c.541-2A>G , LRG_287t2:c.541-2A>G	NP_861463.1:n.541-2A>G
NM_000218.3:c.922-2A>G MANE Select	NP_000209.2:n.922-2A>G