Canonical Allele Identifier: CA379130978

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 519369
• ClinVar RCV Id: RCV000618009 ; RCV001208025 ; RCV001841804
• dbSNP Id: rs1554893091
• MyVariant Identifiers: chr11:g.2593289C>T (hg19) ; chr11:g.2572059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572059C>T , CM000673.2:g.2572059C>T	GRCh38
NC_000011.9:g.2593289C>T , CM000673.1:g.2593289C>T	GRCh37
NC_000011.8:g.2549865C>T	NCBI36
NG_008935.1:g.132069C>T , LRG_287:g.132069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.469C>T	ENSP00000434560.2:p.Gln157Ter
ENST00000646564.2:c.478-11376C>T	ENSP00000495806.2:n.478-11376C>T
ENST00000155840.12:c.730C>T MANE Select	ENSP00000155840.2:p.Gln244Ter
ENST00000335475.6:c.349C>T	ENSP00000334497.5:p.Gln117Ter
ENST00000646564.1:c.124-11376C>T	ENSP00000495806.1:n.124-11376C>T
ENST00000155840.9:c.730C>T	ENSP00000155840.2:p.Gln244Ter
ENST00000335475.5:c.349C>T	ENSP00000334497.5:p.Gln117Ter
ENST00000496887.6:c.469C>T	ENSP00000434560.1:p.Gln157Ter
NM_000218.2:c.730C>T , LRG_287t1:c.730C>T	NP_000209.2:p.Gln244Ter
NM_181798.1:c.349C>T , LRG_287t2:c.349C>T	NP_861463.1:p.Gln117Ter
NM_000218.3:c.730C>T MANE Select	NP_000209.2:p.Gln244Ter