Canonical Allele Identifier: CA031441

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 444243
• ClinVar RCV Id: RCV000513565 ; RCV001841404 ; RCV002404324 ; RCV003318379
• dbSNP Id: rs574321120
• ExAC: 11:2797197 G / A
• gnomAD v2: 11-2797197-G-A
• gnomAD v3: 11-2775967-G-A
• gnomAD v4: 11-2775967-G-A
• MyVariant Identifiers: chr11:g.2797197G>A (hg19) ; chr11:g.2775967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775967G>A , CM000673.2:g.2775967G>A	GRCh38
NC_000011.9:g.2797197G>A , CM000673.1:g.2797197G>A	GRCh37
NC_000011.8:g.2753773G>A	NCBI36
NG_008935.1:g.335977G>A , LRG_287:g.335977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1241G>A	ENSP00000434560.2:p.Arg414Gln
ENST00000646564.2:c.1058G>A	ENSP00000495806.2:p.Arg353Gln
ENST00000155840.12:c.1598G>A MANE Select	ENSP00000155840.2:p.Arg533Gln
ENST00000335475.6:c.1217G>A	ENSP00000334497.5:p.Arg406Gln
ENST00000646564.1:c.704G>A	ENSP00000495806.1:p.Arg235Gln
ENST00000155840.9:c.1598G>A	ENSP00000155840.2:p.Arg533Gln
ENST00000335475.5:c.1217G>A	ENSP00000334497.5:p.Arg406Gln
NM_000218.2:c.1598G>A , LRG_287t1:c.1598G>A	NP_000209.2:p.Arg533Gln
NM_181798.1:c.1217G>A , LRG_287t2:c.1217G>A	NP_861463.1:p.Arg406Gln
NM_000218.3:c.1598G>A MANE Select	NP_000209.2:p.Arg533Gln