Canonical Allele Identifier: CA008353
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67109
dbSNP Id: rs199472728
gnomAD v2: 11-2594115-A-G
gnomAD v3: 11-2572885-A-G
gnomAD v4: 11-2572885-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572885A>G , CM000673.2:g.2572885A>G GRCh38
NC_000011.9:g.2594115A>G , CM000673.1:g.2594115A>G GRCh37
NC_000011.8:g.2550691A>G NCBI36
NG_008935.1:g.132895A>G , LRG_287:g.132895A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.559A>G ENSP00000434560.2:p.Ile187Val
ENST00000646564.2:c.478-10550A>G ENSP00000495806.2:n.478-10550A>G
ENST00000155840.12:c.820A>G MANE Select ENSP00000155840.2:p.Ile274Val
ENST00000335475.6:c.439A>G ENSP00000334497.5:p.Ile147Val
ENST00000646564.1:c.124-10550A>G ENSP00000495806.1:n.124-10550A>G
ENST00000155840.9:c.820A>G ENSP00000155840.2:p.Ile274Val
ENST00000335475.5:c.439A>G ENSP00000334497.5:p.Ile147Val
ENST00000496887.6:c.559A>G ENSP00000434560.1:p.Ile187Val
NM_000218.2:c.820A>G , LRG_287t1:c.820A>G NP_000209.2:p.Ile274Val
NM_181798.1:c.439A>G , LRG_287t2:c.439A>G NP_861463.1:p.Ile147Val
NM_000218.3:c.820A>G MANE Select NP_000209.2:p.Ile274Val