Canonical Allele Identifier: CA16613304
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405265
ClinVar RCV Id: RCV000459171
dbSNP Id: rs1060500628
gnomAD v4: 11-2572062-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572062G>T , CM000673.2:g.2572062G>T GRCh38
NC_000011.9:g.2593292G>T , CM000673.1:g.2593292G>T GRCh37
NC_000011.8:g.2549868G>T NCBI36
NG_008935.1:g.132072G>T , LRG_287:g.132072G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.472G>T ENSP00000434560.2:p.Gly158Ter
ENST00000646564.2:c.478-11373G>T ENSP00000495806.2:n.478-11373G>T
ENST00000155840.12:c.733G>T MANE Select ENSP00000155840.2:p.Gly245Ter
ENST00000335475.6:c.352G>T ENSP00000334497.5:p.Gly118Ter
ENST00000646564.1:c.124-11373G>T ENSP00000495806.1:n.124-11373G>T
ENST00000155840.9:c.733G>T ENSP00000155840.2:p.Gly245Ter
ENST00000335475.5:c.352G>T ENSP00000334497.5:p.Gly118Ter
ENST00000496887.6:c.472G>T ENSP00000434560.1:p.Gly158Ter
NM_000218.2:c.733G>T , LRG_287t1:c.733G>T NP_000209.2:p.Gly245Ter
NM_181798.1:c.352G>T , LRG_287t2:c.352G>T NP_861463.1:p.Gly118Ter
NM_000218.3:c.733G>T MANE Select NP_000209.2:p.Gly245Ter