Canonical Allele Identifier: CA379133042

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604723C>T (hg19) ; chr11:g.2583493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583493C>T , CM000673.2:g.2583493C>T	GRCh38
NC_000011.9:g.2604723C>T , CM000673.1:g.2604723C>T	GRCh37
NC_000011.8:g.2561299C>T	NCBI36
NG_008935.1:g.143503C>T , LRG_287:g.143503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.719C>T	ENSP00000434560.2:p.Thr240Ile
ENST00000646564.2:c.536C>T	ENSP00000495806.2:p.Thr179Ile
ENST00000155840.12:c.980C>T MANE Select	ENSP00000155840.2:p.Thr327Ile
ENST00000335475.6:c.599C>T	ENSP00000334497.5:p.Thr200Ile
ENST00000646564.1:c.182C>T	ENSP00000495806.1:p.Thr61Ile
ENST00000155840.9:c.980C>T	ENSP00000155840.2:p.Thr327Ile
ENST00000335475.5:c.599C>T	ENSP00000334497.5:p.Thr200Ile
NM_000218.2:c.980C>T , LRG_287t1:c.980C>T	NP_000209.2:p.Thr327Ile
NM_181798.1:c.599C>T , LRG_287t2:c.599C>T	NP_861463.1:p.Thr200Ile
NM_000218.3:c.980C>T MANE Select	NP_000209.2:p.Thr327Ile