Canonical Allele Identifier: CA379121429

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549202C>T (hg19) ; chr11:g.2527972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527972C>T , CM000673.2:g.2527972C>T	GRCh38
NC_000011.9:g.2549202C>T , CM000673.1:g.2549202C>T	GRCh37
NC_000011.8:g.2505778C>T	NCBI36
NG_008935.1:g.87982C>T , LRG_287:g.87982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.228C>T
ENST00000496887.7:c.170C>T	ENSP00000434560.2:p.Thr57Ile
ENST00000646564.2:c.431C>T	ENSP00000495806.2:p.Thr144Ile
ENST00000155840.12:c.431C>T MANE Select	ENSP00000155840.2:p.Thr144Ile
ENST00000335475.6:c.50C>T	ENSP00000334497.5:p.Thr17Ile
ENST00000646564.1:c.77C>T	ENSP00000495806.1:p.Thr26Ile
ENST00000155840.9:c.431C>T	ENSP00000155840.2:p.Thr144Ile
ENST00000335475.5:c.50C>T	ENSP00000334497.5:p.Thr17Ile
ENST00000345015.4:n.300C>T
ENST00000380776.4:c.221C>T	ENSP00000370153.4:p.Thr74Ile
ENST00000496887.6:c.170C>T	ENSP00000434560.1:p.Thr57Ile
NM_000218.2:c.431C>T , LRG_287t1:c.431C>T	NP_000209.2:p.Thr144Ile
NM_181798.1:c.50C>T , LRG_287t2:c.50C>T	NP_861463.1:p.Thr17Ile
NM_000218.3:c.431C>T MANE Select	NP_000209.2:p.Thr144Ile