Canonical Allele Identifier: CA037341

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2587405
• ClinVar RCV Id: RCV003350694
• dbSNP Id: rs769788538
• ExAC: 11:2549236 T / G
• gnomAD v2: 11-2549236-T-G
• gnomAD v3: 11-2528006-T-G
• gnomAD v4: 11-2528006-T-G
• MyVariant Identifiers: chr11:g.2549236T>G (hg19) ; chr11:g.2528006T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528006T>G , CM000673.2:g.2528006T>G	GRCh38
NC_000011.9:g.2549236T>G , CM000673.1:g.2549236T>G	GRCh37
NC_000011.8:g.2505812T>G	NCBI36
NG_008935.1:g.88016T>G , LRG_287:g.88016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.204T>G	ENSP00000434560.2:p.Thr68=
ENST00000646564.2:c.465T>G	ENSP00000495806.2:p.Thr155=
ENST00000155840.12:c.465T>G MANE Select	ENSP00000155840.2:p.Thr155=
ENST00000335475.6:c.84T>G	ENSP00000334497.5:p.Thr28=
ENST00000646564.1:c.111T>G	ENSP00000495806.1:p.Thr37=
ENST00000155840.9:c.465T>G	ENSP00000155840.2:p.Thr155=
ENST00000335475.5:c.84T>G	ENSP00000334497.5:p.Thr28=
ENST00000496887.6:c.204T>G	ENSP00000434560.1:p.Thr68=
NM_000218.2:c.465T>G , LRG_287t1:c.465T>G	NP_000209.2:p.Thr155=
NM_181798.1:c.84T>G , LRG_287t2:c.84T>G	NP_861463.1:p.Thr28=
NM_000218.3:c.465T>G MANE Select	NP_000209.2:p.Thr155=