Canonical Allele Identifier: CA891842704

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 565928
• ClinVar RCV Id: RCV000685611
• dbSNP Id: rs1564826087
• gnomAD v4: 11-2587697-G-A
• MyVariant Identifiers: chr11:g.2608927G>A (hg19) ; chr11:g.2587697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587697G>A , CM000673.2:g.2587697G>A	GRCh38
NC_000011.9:g.2608927G>A , CM000673.1:g.2608927G>A	GRCh37
NC_000011.8:g.2565503G>A	NCBI36
NG_008935.1:g.147707G>A , LRG_287:g.147707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.894+5G>A	ENSP00000434560.2:n.894+5G>A
ENST00000646564.2:c.711+5G>A	ENSP00000495806.2:n.711+5G>A
ENST00000155840.12:c.1251+5G>A MANE Select	ENSP00000155840.2:n.1251+5G>A
ENST00000335475.6:c.870+5G>A	ENSP00000334497.5:n.870+5G>A
ENST00000646564.1:c.357+5G>A	ENSP00000495806.1:n.357+5G>A
ENST00000155840.9:c.1251+5G>A	ENSP00000155840.2:n.1251+5G>A
ENST00000335475.5:c.870+5G>A	ENSP00000334497.5:n.870+5G>A
NM_000218.2:c.1251+5G>A , LRG_287t1:c.1251+5G>A	NP_000209.2:n.1251+5G>A
NM_181798.1:c.870+5G>A , LRG_287t2:c.870+5G>A	NP_861463.1:n.870+5G>A
NM_000218.3:c.1251+5G>A MANE Select	NP_000209.2:n.1251+5G>A