Canonical Allele Identifier: CA472416175

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1100473
• ClinVar RCV Id: RCV001423101
• dbSNP Id: rs1380003005
• gnomAD v2: 11-2466550-A-G
• gnomAD v3: 11-2445320-A-G
• gnomAD v4: 11-2445320-A-G
• MyVariant Identifiers: chr11:g.2466550A>G (hg19) ; chr11:g.2445320A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445320A>G , CM000673.2:g.2445320A>G	GRCh38
NC_000011.9:g.2466550A>G , CM000673.1:g.2466550A>G	GRCh37
NC_000011.8:g.2423126A>G	NCBI36
NG_008935.1:g.5330A>G , LRG_287:g.5330A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-63A>G	ENSP00000434560.2:n.24-63A>G
ENST00000646564.2:c.222A>G	ENSP00000495806.2:p.Pro74=
ENST00000155840.12:c.222A>G MANE Select	ENSP00000155840.2:p.Pro74=
ENST00000155840.9:c.222A>G	ENSP00000155840.2:p.Pro74=
ENST00000496887.6:c.24-63A>G	ENSP00000434560.1:n.24-63A>G
NM_000218.2:c.222A>G , LRG_287t1:c.222A>G	NP_000209.2:p.Pro74=
NM_000218.3:c.222A>G MANE Select	NP_000209.2:p.Pro74=