Canonical Allele Identifier: CA379139139
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705014
ClinVar RCV Id: RCV002283341
gnomAD v4: 11-2775999-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2775999C>A , CM000673.2:g.2775999C>A GRCh38
NC_000011.9:g.2797229C>A , CM000673.1:g.2797229C>A GRCh37
NC_000011.8:g.2753805C>A NCBI36
NG_008935.1:g.336009C>A , LRG_287:g.336009C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1273C>A ENSP00000434560.2:p.Gln425Lys
ENST00000646564.2:c.1090C>A ENSP00000495806.2:p.Gln364Lys
ENST00000155840.12:c.1630C>A MANE Select ENSP00000155840.2:p.Gln544Lys
ENST00000335475.6:c.1249C>A ENSP00000334497.5:p.Gln417Lys
ENST00000646564.1:c.736C>A ENSP00000495806.1:p.Gln246Lys
ENST00000155840.9:c.1630C>A ENSP00000155840.2:p.Gln544Lys
ENST00000335475.5:c.1249C>A ENSP00000334497.5:p.Gln417Lys
NM_000218.2:c.1630C>A , LRG_287t1:c.1630C>A NP_000209.2:p.Gln544Lys
NM_181798.1:c.1249C>A , LRG_287t2:c.1249C>A NP_861463.1:p.Gln417Lys
NM_000218.3:c.1630C>A MANE Select NP_000209.2:p.Gln544Lys