Canonical Allele Identifier: CA379134652

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608807G>T (hg19) ; chr11:g.2587577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587577G>T , CM000673.2:g.2587577G>T	GRCh38
NC_000011.9:g.2608807G>T , CM000673.1:g.2608807G>T	GRCh37
NC_000011.8:g.2565383G>T	NCBI36
NG_008935.1:g.147587G>T , LRG_287:g.147587G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.779G>T	ENSP00000434560.2:p.Trp260Leu
ENST00000646564.2:c.596G>T	ENSP00000495806.2:p.Trp199Leu
ENST00000155840.12:c.1136G>T MANE Select	ENSP00000155840.2:p.Trp379Leu
ENST00000335475.6:c.755G>T	ENSP00000334497.5:p.Trp252Leu
ENST00000646564.1:c.242G>T	ENSP00000495806.1:p.Trp81Leu
ENST00000155840.9:c.1136G>T	ENSP00000155840.2:p.Trp379Leu
ENST00000335475.5:c.755G>T	ENSP00000334497.5:p.Trp252Leu
NM_000218.2:c.1136G>T , LRG_287t1:c.1136G>T	NP_000209.2:p.Trp379Leu
NM_181798.1:c.755G>T , LRG_287t2:c.755G>T	NP_861463.1:p.Trp252Leu
NM_000218.3:c.1136G>T MANE Select	NP_000209.2:p.Trp379Leu