Canonical Allele Identifier: CA379134775

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 518535
• ClinVar RCV Id: RCV000621150 ; RCV000818634 ; RCV001841785 ; RCV002281118
• dbSNP Id: rs1489132337
• gnomAD v3: 11-2587639-C-G
• gnomAD v4: 11-2587639-C-G
• MyVariant Identifiers: chr11:g.2608869C>G (hg19) ; chr11:g.2587639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587639C>G , CM000673.2:g.2587639C>G	GRCh38
NC_000011.9:g.2608869C>G , CM000673.1:g.2608869C>G	GRCh37
NC_000011.8:g.2565445C>G	NCBI36
NG_008935.1:g.147649C>G , LRG_287:g.147649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.841C>G	ENSP00000434560.2:p.Pro281Ala
ENST00000646564.2:c.658C>G	ENSP00000495806.2:p.Pro220Ala
ENST00000155840.12:c.1198C>G MANE Select	ENSP00000155840.2:p.Pro400Ala
ENST00000335475.6:c.817C>G	ENSP00000334497.5:p.Pro273Ala
ENST00000646564.1:c.304C>G	ENSP00000495806.1:p.Pro102Ala
ENST00000155840.9:c.1198C>G	ENSP00000155840.2:p.Pro400Ala
ENST00000335475.5:c.817C>G	ENSP00000334497.5:p.Pro273Ala
NM_000218.2:c.1198C>G , LRG_287t1:c.1198C>G	NP_000209.2:p.Pro400Ala
NM_181798.1:c.817C>G , LRG_287t2:c.817C>G	NP_861463.1:p.Pro273Ala
NM_000218.3:c.1198C>G MANE Select	NP_000209.2:p.Pro400Ala