Canonical Allele Identifier: CA379132952

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604665G>T (hg19) ; chr11:g.2583435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583435G>T , CM000673.2:g.2583435G>T	GRCh38
NC_000011.9:g.2604665G>T , CM000673.1:g.2604665G>T	GRCh37
NC_000011.8:g.2561241G>T	NCBI36
NG_008935.1:g.143445G>T , LRG_287:g.143445G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661G>T	ENSP00000434560.2:p.Val221Phe
ENST00000646564.2:c.478G>T	ENSP00000495806.2:p.Val160Phe
ENST00000155840.12:c.922G>T MANE Select	ENSP00000155840.2:p.Val308Phe
ENST00000335475.6:c.541G>T	ENSP00000334497.5:p.Val181Phe
ENST00000646564.1:c.124G>T	ENSP00000495806.1:p.Val42Phe
ENST00000155840.9:c.922G>T	ENSP00000155840.2:p.Val308Phe
ENST00000335475.5:c.541G>T	ENSP00000334497.5:p.Val181Phe
NM_000218.2:c.922G>T , LRG_287t1:c.922G>T	NP_000209.2:p.Val308Phe
NM_181798.1:c.541G>T , LRG_287t2:c.541G>T	NP_861463.1:p.Val181Phe
NM_000218.3:c.922G>T MANE Select	NP_000209.2:p.Val308Phe