Canonical Allele Identifier: CA029037

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 919916
• ClinVar RCV Id: RCV001842728 ; RCV001773422 ; RCV004006473
• dbSNP Id: rs770410327
• ExAC: 11:2610070 G / A
• gnomAD v2: 11-2610070-G-A
• gnomAD v3: 11-2588840-G-A
• gnomAD v4: 11-2588840-G-A
• MyVariant Identifiers: chr11:g.2610070G>A (hg19) ; chr11:g.2588840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588840G>A , CM000673.2:g.2588840G>A	GRCh38
NC_000011.9:g.2610070G>A , CM000673.1:g.2610070G>A	GRCh37
NC_000011.8:g.2566646G>A	NCBI36
NG_008935.1:g.148850G>A , LRG_287:g.148850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1022G>A	ENSP00000434560.2:p.Gly341Asp
ENST00000646564.2:c.839G>A	ENSP00000495806.2:p.Gly280Asp
ENST00000155840.12:c.1379G>A MANE Select	ENSP00000155840.2:p.Gly460Asp
ENST00000335475.6:c.998G>A	ENSP00000334497.5:p.Gly333Asp
ENST00000646564.1:c.485G>A	ENSP00000495806.1:p.Gly162Asp
ENST00000155840.9:c.1379G>A	ENSP00000155840.2:p.Gly460Asp
ENST00000335475.5:c.998G>A	ENSP00000334497.5:p.Gly333Asp
NM_000218.2:c.1379G>A , LRG_287t1:c.1379G>A	NP_000209.2:p.Gly460Asp
NM_181798.1:c.998G>A , LRG_287t2:c.998G>A	NP_861463.1:p.Gly333Asp
NM_000218.3:c.1379G>A MANE Select	NP_000209.2:p.Gly460Asp