Canonical Allele Identifier: CA041958

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 390829
• ClinVar RCV Id: RCV000555327 ; RCV000994550 ; RCV002379377 ; RCV001841332
• dbSNP Id: rs769230282
• ExAC: 11:2604742 T / G
• gnomAD v2: 11-2604742-T-G
• gnomAD v3: 11-2583512-T-G
• gnomAD v4: 11-2583512-T-G
• MyVariant Identifiers: chr11:g.2604742T>G (hg19) ; chr11:g.2583512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583512T>G , CM000673.2:g.2583512T>G	GRCh38
NC_000011.9:g.2604742T>G , CM000673.1:g.2604742T>G	GRCh37
NC_000011.8:g.2561318T>G	NCBI36
NG_008935.1:g.143522T>G , LRG_287:g.143522T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.738T>G	ENSP00000434560.2:p.Ser246=
ENST00000646564.2:c.555T>G	ENSP00000495806.2:p.Ser185=
ENST00000155840.12:c.999T>G MANE Select	ENSP00000155840.2:p.Ser333=
ENST00000335475.6:c.618T>G	ENSP00000334497.5:p.Ser206=
ENST00000646564.1:c.201T>G	ENSP00000495806.1:p.Ser67=
ENST00000155840.9:c.999T>G	ENSP00000155840.2:p.Ser333=
ENST00000335475.5:c.618T>G	ENSP00000334497.5:p.Ser206=
NM_000218.2:c.999T>G , LRG_287t1:c.999T>G	NP_000209.2:p.Ser333=
NM_181798.1:c.618T>G , LRG_287t2:c.618T>G	NP_861463.1:p.Ser206=
NM_000218.3:c.999T>G MANE Select	NP_000209.2:p.Ser333=