Canonical Allele Identifier: CA10638251
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304218
dbSNP Id: rs886048164

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572840G>T , CM000673.2:g.2572840G>T GRCh38
NC_000011.9:g.2594070G>T , CM000673.1:g.2594070G>T GRCh37
NC_000011.8:g.2550646G>T NCBI36
NG_008935.1:g.132850G>T , LRG_287:g.132850G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.781-6G>T MANE Select ENSP00000155840.2:p.=
ENST00000335475.6:c.400-6G>T ENSP00000334497.5:p.=
ENST00000646564.1:n.124-10595G>T ENSP00000495806.1:p.=
ENST00000155840.9:c.781-6G>T ENSP00000155840.2:p.=
ENST00000335475.5:c.400-6G>T ENSP00000334497.5:p.=
ENST00000496887.6:c.520-6G>T ENSP00000434560.1:p.=
NM_000218.2:c.781-6G>T , LRG_287t1:c.781-6G>T NP_000209.2:p.=
NM_181798.1:c.400-6G>T , LRG_287t2:c.400-6G>T NP_861463.1:p.=
NM_000218.3:c.781-6G>T MANE Select NP_000209.2:p.=