Canonical Allele Identifier: CA379135145

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1190302
• ClinVar RCV Id: RCV001550960
• dbSNP Id: rs2133760853
• MyVariant Identifiers: chr11:g.2610061C>T (hg19) ; chr11:g.2588831C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588831C>T , CM000673.2:g.2588831C>T	GRCh38
NC_000011.9:g.2610061C>T , CM000673.1:g.2610061C>T	GRCh37
NC_000011.8:g.2566637C>T	NCBI36
NG_008935.1:g.148841C>T , LRG_287:g.148841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1013C>T	ENSP00000434560.2:p.Ser338Phe
ENST00000646564.2:c.830C>T	ENSP00000495806.2:p.Ser277Phe
ENST00000155840.12:c.1370C>T MANE Select	ENSP00000155840.2:p.Ser457Phe
ENST00000335475.6:c.989C>T	ENSP00000334497.5:p.Ser330Phe
ENST00000646564.1:c.476C>T	ENSP00000495806.1:p.Ser159Phe
ENST00000155840.9:c.1370C>T	ENSP00000155840.2:p.Ser457Phe
ENST00000335475.5:c.989C>T	ENSP00000334497.5:p.Ser330Phe
NM_000218.2:c.1370C>T , LRG_287t1:c.1370C>T	NP_000209.2:p.Ser457Phe
NM_181798.1:c.989C>T , LRG_287t2:c.989C>T	NP_861463.1:p.Ser330Phe
NM_000218.3:c.1370C>T MANE Select	NP_000209.2:p.Ser457Phe