Canonical Allele Identifier: CA472038420

Gene: KCNQ1

Linked Data

• dbSNP Id: rs554518844
• gnomAD v3: 11-2583485-C-A
• gnomAD v4: 11-2583485-C-A
• MyVariant Identifiers: chr11:g.2604715C>A (hg19) ; chr11:g.2583485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583485C>A , CM000673.2:g.2583485C>A	GRCh38
NC_000011.9:g.2604715C>A , CM000673.1:g.2604715C>A	GRCh37
NC_000011.8:g.2561291C>A	NCBI36
NG_008935.1:g.143495C>A , LRG_287:g.143495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.711C>A	ENSP00000434560.2:p.Val237=
ENST00000646564.2:c.528C>A	ENSP00000495806.2:p.Val176=
ENST00000155840.12:c.972C>A MANE Select	ENSP00000155840.2:p.Val324=
ENST00000335475.6:c.591C>A	ENSP00000334497.5:p.Val197=
ENST00000646564.1:c.174C>A	ENSP00000495806.1:p.Val58=
ENST00000155840.9:c.972C>A	ENSP00000155840.2:p.Val324=
ENST00000335475.5:c.591C>A	ENSP00000334497.5:p.Val197=
NM_000218.2:c.972C>A , LRG_287t1:c.972C>A	NP_000209.2:p.Val324=
NM_181798.1:c.591C>A , LRG_287t2:c.591C>A	NP_861463.1:p.Val197=
NM_000218.3:c.972C>A MANE Select	NP_000209.2:p.Val324=