Canonical Allele Identifier: CA008091
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200821
dbSNP Id: rs764781840
gnomAD v2: 11-2593316-T-C
gnomAD v4: 11-2572086-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572086T>C , CM000673.2:g.2572086T>C GRCh38
NC_000011.9:g.2593316T>C , CM000673.1:g.2593316T>C GRCh37
NC_000011.8:g.2549892T>C NCBI36
NG_008935.1:g.132096T>C , LRG_287:g.132096T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.496T>C ENSP00000434560.2:p.Ser166Pro
ENST00000646564.2:c.478-11349T>C ENSP00000495806.2:n.478-11349T>C
ENST00000155840.12:c.757T>C MANE Select ENSP00000155840.2:p.Ser253Pro
ENST00000335475.6:c.376T>C ENSP00000334497.5:p.Ser126Pro
ENST00000646564.1:c.124-11349T>C ENSP00000495806.1:n.124-11349T>C
ENST00000155840.9:c.757T>C ENSP00000155840.2:p.Ser253Pro
ENST00000335475.5:c.376T>C ENSP00000334497.5:p.Ser126Pro
ENST00000496887.6:c.496T>C ENSP00000434560.1:p.Ser166Pro
NM_000218.2:c.757T>C , LRG_287t1:c.757T>C NP_000209.2:p.Ser253Pro
NM_181798.1:c.376T>C , LRG_287t2:c.376T>C NP_861463.1:p.Ser126Pro
NM_000218.3:c.757T>C MANE Select NP_000209.2:p.Ser253Pro