Canonical Allele Identifier: CA030713

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 519296
• ClinVar RCV Id: RCV001841801 ; RCV002470932 ; RCV002499001
• dbSNP Id: rs369571296
• ExAC: 11:2790079 G / A
• gnomAD v2: 11-2790079-G-A
• gnomAD v3: 11-2768849-G-A
• gnomAD v4: 11-2768849-G-A
• MyVariant Identifiers: chr11:g.2790079G>A (hg19) ; chr11:g.2768849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768849G>A , CM000673.2:g.2768849G>A	GRCh38
NC_000011.9:g.2790079G>A , CM000673.1:g.2790079G>A	GRCh37
NC_000011.8:g.2746655G>A	NCBI36
NG_008935.1:g.328859G>A , LRG_287:g.328859G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1163G>A	ENSP00000434560.2:p.Arg388Gln
ENST00000646564.2:c.980G>A	ENSP00000495806.2:p.Arg327Gln
ENST00000155840.12:c.1520G>A MANE Select	ENSP00000155840.2:p.Arg507Gln
ENST00000335475.6:c.1139G>A	ENSP00000334497.5:p.Arg380Gln
ENST00000646564.1:c.626G>A	ENSP00000495806.1:p.Arg209Gln
ENST00000155840.9:c.1520G>A	ENSP00000155840.2:p.Arg507Gln
ENST00000335475.5:c.1139G>A	ENSP00000334497.5:p.Arg380Gln
NM_000218.2:c.1520G>A , LRG_287t1:c.1520G>A	NP_000209.2:p.Arg507Gln
NM_181798.1:c.1139G>A , LRG_287t2:c.1139G>A	NP_861463.1:p.Arg380Gln
NM_000218.3:c.1520G>A MANE Select	NP_000209.2:p.Arg507Gln