Canonical Allele Identifier: CA379131697
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919940
ClinVar RCV Id: RCV001842731
dbSNP Id: rs120074187
gnomAD v4: 11-2572963-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572963G>T , CM000673.2:g.2572963G>T GRCh38
NC_000011.9:g.2594193G>T , CM000673.1:g.2594193G>T GRCh37
NC_000011.8:g.2550769G>T NCBI36
NG_008935.1:g.132973G>T , LRG_287:g.132973G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.637G>T ENSP00000434560.2:p.Ala213Ser
ENST00000646564.2:c.478-10472G>T ENSP00000495806.2:n.478-10472G>T
ENST00000155840.12:c.898G>T MANE Select ENSP00000155840.2:p.Ala300Ser
ENST00000335475.6:c.517G>T ENSP00000334497.5:p.Ala173Ser
ENST00000646564.1:c.124-10472G>T ENSP00000495806.1:n.124-10472G>T
ENST00000155840.9:c.898G>T ENSP00000155840.2:p.Ala300Ser
ENST00000335475.5:c.517G>T ENSP00000334497.5:p.Ala173Ser
NM_000218.2:c.898G>T , LRG_287t1:c.898G>T NP_000209.2:p.Ala300Ser
NM_181798.1:c.517G>T , LRG_287t2:c.517G>T NP_861463.1:p.Ala173Ser
NM_000218.3:c.898G>T MANE Select NP_000209.2:p.Ala300Ser