Canonical Allele Identifier: CA379131678

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1765209
• ClinVar RCV Id: RCV002376199
• MyVariant Identifiers: chr11:g.2594189C>A (hg19) ; chr11:g.2572959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572959C>A , CM000673.2:g.2572959C>A	GRCh38
NC_000011.9:g.2594189C>A , CM000673.1:g.2594189C>A	GRCh37
NC_000011.8:g.2550765C>A	NCBI36
NG_008935.1:g.132969C>A , LRG_287:g.132969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.633C>A	ENSP00000434560.2:p.Ser211Arg
ENST00000646564.2:c.478-10476C>A	ENSP00000495806.2:n.478-10476C>A
ENST00000155840.12:c.894C>A MANE Select	ENSP00000155840.2:p.Ser298Arg
ENST00000335475.6:c.513C>A	ENSP00000334497.5:p.Ser171Arg
ENST00000646564.1:c.124-10476C>A	ENSP00000495806.1:n.124-10476C>A
ENST00000155840.9:c.894C>A	ENSP00000155840.2:p.Ser298Arg
ENST00000335475.5:c.513C>A	ENSP00000334497.5:p.Ser171Arg
NM_000218.2:c.894C>A , LRG_287t1:c.894C>A	NP_000209.2:p.Ser298Arg
NM_181798.1:c.513C>A , LRG_287t2:c.513C>A	NP_861463.1:p.Ser171Arg
NM_000218.3:c.894C>A MANE Select	NP_000209.2:p.Ser298Arg