Canonical Allele Identifier: CA379133900

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1339593
• ClinVar RCV Id: RCV001824495 ; RCV002466703
• dbSNP Id: rs781369724
• MyVariant Identifiers: chr11:g.2606515C>T (hg19) ; chr11:g.2585285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585285C>T , CM000673.2:g.2585285C>T	GRCh38
NC_000011.9:g.2606515C>T , CM000673.1:g.2606515C>T	GRCh37
NC_000011.8:g.2563091C>T	NCBI36
NG_008935.1:g.145295C>T , LRG_287:g.145295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1740C>T	ENSP00000434560.2:n.771+1740C>T
ENST00000646564.2:c.588+1740C>T	ENSP00000495806.2:n.588+1740C>T
ENST00000155840.12:c.1106C>T MANE Select	ENSP00000155840.2:p.Pro369Leu
ENST00000335475.6:c.725C>T	ENSP00000334497.5:p.Pro242Leu
ENST00000646564.1:c.234+1740C>T	ENSP00000495806.1:n.234+1740C>T
ENST00000155840.9:c.1106C>T	ENSP00000155840.2:p.Pro369Leu
ENST00000335475.5:c.725C>T	ENSP00000334497.5:p.Pro242Leu
NM_000218.2:c.1106C>T , LRG_287t1:c.1106C>T	NP_000209.2:p.Pro369Leu
NM_181798.1:c.725C>T , LRG_287t2:c.725C>T	NP_861463.1:p.Pro242Leu
NM_000218.3:c.1106C>T MANE Select	NP_000209.2:p.Pro369Leu