Canonical Allele Identifier: CA028729

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 264157
• ClinVar RCV Id: RCV000241770 ; RCV001035204 ; RCV003591725
• dbSNP Id: rs143149582
• ExAC: 11:2610031 C / A
• gnomAD v2: 11-2610031-C-A
• gnomAD v3: 11-2588801-C-A
• gnomAD v4: 11-2588801-C-A
• MyVariant Identifiers: chr11:g.2610031C>A (hg19) ; chr11:g.2588801C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588801C>A , CM000673.2:g.2588801C>A	GRCh38
NC_000011.9:g.2610031C>A , CM000673.1:g.2610031C>A	GRCh37
NC_000011.8:g.2566607C>A	NCBI36
NG_008935.1:g.148811C>A , LRG_287:g.148811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.983C>A	ENSP00000434560.2:p.Pro328His
ENST00000646564.2:c.800C>A	ENSP00000495806.2:p.Pro267His
ENST00000155840.12:c.1340C>A MANE Select	ENSP00000155840.2:p.Pro447His
ENST00000335475.6:c.959C>A	ENSP00000334497.5:p.Pro320His
ENST00000646564.1:c.446C>A	ENSP00000495806.1:p.Pro149His
ENST00000155840.9:c.1340C>A	ENSP00000155840.2:p.Pro447His
ENST00000335475.5:c.959C>A	ENSP00000334497.5:p.Pro320His
NM_000218.2:c.1340C>A , LRG_287t1:c.1340C>A	NP_000209.2:p.Pro447His
NM_181798.1:c.959C>A , LRG_287t2:c.959C>A	NP_861463.1:p.Pro320His
NM_000218.3:c.1340C>A MANE Select	NP_000209.2:p.Pro447His