Canonical Allele Identifier: CA16613563

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405257
• ClinVar RCV Id: RCV000470657 ; RCV001558264 ; RCV003224284
• dbSNP Id: rs1001293702
• gnomAD v4: 11-2572964-C-A
• MyVariant Identifiers: chr11:g.2594194C>A (hg19) ; chr11:g.2572964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572964C>A , CM000673.2:g.2572964C>A	GRCh38
NC_000011.9:g.2594194C>A , CM000673.1:g.2594194C>A	GRCh37
NC_000011.8:g.2550770C>A	NCBI36
NG_008935.1:g.132974C>A , LRG_287:g.132974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.638C>A	ENSP00000434560.2:p.Ala213Glu
ENST00000646564.2:c.478-10471C>A	ENSP00000495806.2:n.478-10471C>A
ENST00000155840.12:c.899C>A MANE Select	ENSP00000155840.2:p.Ala300Glu
ENST00000335475.6:c.518C>A	ENSP00000334497.5:p.Ala173Glu
ENST00000646564.1:c.124-10471C>A	ENSP00000495806.1:n.124-10471C>A
ENST00000155840.9:c.899C>A	ENSP00000155840.2:p.Ala300Glu
ENST00000335475.5:c.518C>A	ENSP00000334497.5:p.Ala173Glu
NM_000218.2:c.899C>A , LRG_287t1:c.899C>A	NP_000209.2:p.Ala300Glu
NM_181798.1:c.518C>A , LRG_287t2:c.518C>A	NP_861463.1:p.Ala173Glu
NM_000218.3:c.899C>A MANE Select	NP_000209.2:p.Ala300Glu