Canonical Allele Identifier: CA008910
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67130
dbSNP Id: rs199472753
gnomAD v4: 11-2583471-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583471C>T , CM000673.2:g.2583471C>T GRCh38
NC_000011.9:g.2604701C>T , CM000673.1:g.2604701C>T GRCh37
NC_000011.8:g.2561277C>T NCBI36
NG_008935.1:g.143481C>T , LRG_287:g.143481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.697C>T ENSP00000434560.2:p.Pro233Ser
ENST00000646564.2:c.514C>T ENSP00000495806.2:p.Pro172Ser
ENST00000155840.12:c.958C>T MANE Select ENSP00000155840.2:p.Pro320Ser
ENST00000335475.6:c.577C>T ENSP00000334497.5:p.Pro193Ser
ENST00000646564.1:c.160C>T ENSP00000495806.1:p.Pro54Ser
ENST00000155840.9:c.958C>T ENSP00000155840.2:p.Pro320Ser
ENST00000335475.5:c.577C>T ENSP00000334497.5:p.Pro193Ser
NM_000218.2:c.958C>T , LRG_287t1:c.958C>T NP_000209.2:p.Pro320Ser
NM_181798.1:c.577C>T , LRG_287t2:c.577C>T NP_861463.1:p.Pro193Ser
NM_000218.3:c.958C>T MANE Select NP_000209.2:p.Pro320Ser