Canonical Allele Identifier: CA16044372
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375594
ClinVar RCV Id: RCV000417068
dbSNP Id: rs1057519584
gnomAD v4: 11-2572900-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572900T>A , CM000673.2:g.2572900T>A GRCh38
NC_000011.9:g.2594130T>A , CM000673.1:g.2594130T>A GRCh37
NC_000011.8:g.2550706T>A NCBI36
NG_008935.1:g.132910T>A , LRG_287:g.132910T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.574T>A ENSP00000434560.2:p.Phe192Ile
ENST00000646564.2:c.478-10535T>A ENSP00000495806.2:n.478-10535T>A
ENST00000155840.12:c.835T>A MANE Select ENSP00000155840.2:p.Phe279Ile
ENST00000335475.6:c.454T>A ENSP00000334497.5:p.Phe152Ile
ENST00000646564.1:c.124-10535T>A ENSP00000495806.1:n.124-10535T>A
ENST00000155840.9:c.835T>A ENSP00000155840.2:p.Phe279Ile
ENST00000335475.5:c.454T>A ENSP00000334497.5:p.Phe152Ile
ENST00000496887.6:c.574T>A ENSP00000434560.1:p.Phe192Ile
NM_000218.2:c.835T>A , LRG_287t1:c.835T>A NP_000209.2:p.Phe279Ile
NM_181798.1:c.454T>A , LRG_287t2:c.454T>A NP_861463.1:p.Phe152Ile
NM_000218.3:c.835T>A MANE Select NP_000209.2:p.Phe279Ile