Canonical Allele Identifier: CA007379
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53063
dbSNP Id: rs199473394
gnomAD v2: 11-2591915-G-A
gnomAD v3: 11-2570685-G-A
gnomAD v4: 11-2570685-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570685G>A , CM000673.2:g.2570685G>A GRCh38
NC_000011.9:g.2591915G>A , CM000673.1:g.2591915G>A GRCh37
NC_000011.8:g.2548491G>A NCBI36
NG_008935.1:g.130695G>A , LRG_287:g.130695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.274G>A ENSP00000434560.2:p.Gly92Ser
ENST00000646564.2:c.478-12750G>A ENSP00000495806.2:n.478-12750G>A
ENST00000155840.12:c.535G>A MANE Select ENSP00000155840.2:p.Gly179Ser
ENST00000335475.6:c.154G>A ENSP00000334497.5:p.Gly52Ser
ENST00000646564.1:c.124-12750G>A ENSP00000495806.1:n.124-12750G>A
ENST00000155840.9:c.535G>A ENSP00000155840.2:p.Gly179Ser
ENST00000335475.5:c.154G>A ENSP00000334497.5:p.Gly52Ser
ENST00000496887.6:c.274G>A ENSP00000434560.1:p.Gly92Ser
NM_000218.2:c.535G>A , LRG_287t1:c.535G>A NP_000209.2:p.Gly179Ser
NM_181798.1:c.154G>A , LRG_287t2:c.154G>A NP_861463.1:p.Gly52Ser
NM_000218.3:c.535G>A MANE Select NP_000209.2:p.Gly179Ser