Canonical Allele Identifier: CA379134654

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608808G>T (hg19) ; chr11:g.2587578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587578G>T , CM000673.2:g.2587578G>T	GRCh38
NC_000011.9:g.2608808G>T , CM000673.1:g.2608808G>T	GRCh37
NC_000011.8:g.2565384G>T	NCBI36
NG_008935.1:g.147588G>T , LRG_287:g.147588G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.780G>T	ENSP00000434560.2:p.Trp260Cys
ENST00000646564.2:c.597G>T	ENSP00000495806.2:p.Trp199Cys
ENST00000155840.12:c.1137G>T MANE Select	ENSP00000155840.2:p.Trp379Cys
ENST00000335475.6:c.756G>T	ENSP00000334497.5:p.Trp252Cys
ENST00000646564.1:c.243G>T	ENSP00000495806.1:p.Trp81Cys
ENST00000155840.9:c.1137G>T	ENSP00000155840.2:p.Trp379Cys
ENST00000335475.5:c.756G>T	ENSP00000334497.5:p.Trp252Cys
NM_000218.2:c.1137G>T , LRG_287t1:c.1137G>T	NP_000209.2:p.Trp379Cys
NM_181798.1:c.756G>T , LRG_287t2:c.756G>T	NP_861463.1:p.Trp252Cys
NM_000218.3:c.1137G>T MANE Select	NP_000209.2:p.Trp379Cys