Canonical Allele Identifier: CA597101319
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1252466254
gnomAD v2: 11-2549390-C-T
gnomAD v3: 11-2528160-C-T
gnomAD v4: 11-2528160-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2528160C>T , CM000673.2:g.2528160C>T GRCh38
NC_000011.9:g.2549390C>T , CM000673.1:g.2549390C>T GRCh37
NC_000011.8:g.2505966C>T NCBI36
NG_008935.1:g.88170C>T , LRG_287:g.88170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.216+142C>T ENSP00000434560.2:n.216+142C>T
ENST00000646564.2:c.477+142C>T ENSP00000495806.2:n.477+142C>T
ENST00000155840.12:c.477+142C>T MANE Select ENSP00000155840.2:n.477+142C>T
ENST00000335475.6:c.96+142C>T ENSP00000334497.5:n.96+142C>T
ENST00000646564.1:c.123+142C>T ENSP00000495806.1:n.123+142C>T
ENST00000155840.9:c.477+142C>T ENSP00000155840.2:n.477+142C>T
ENST00000335475.5:c.96+142C>T ENSP00000334497.5:n.96+142C>T
ENST00000496887.6:c.216+142C>T ENSP00000434560.1:n.216+142C>T
NM_000218.2:c.477+142C>T , LRG_287t1:c.477+142C>T NP_000209.2:n.477+142C>T
NM_181798.1:c.96+142C>T , LRG_287t2:c.96+142C>T NP_861463.1:n.96+142C>T
NM_000218.3:c.477+142C>T MANE Select NP_000209.2:n.477+142C>T