Canonical Allele Identifier: CA379135040

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2610007C>T (hg19) ; chr11:g.2588777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588777C>T , CM000673.2:g.2588777C>T	GRCh38
NC_000011.9:g.2610007C>T , CM000673.1:g.2610007C>T	GRCh37
NC_000011.8:g.2566583C>T	NCBI36
NG_008935.1:g.148787C>T , LRG_287:g.148787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.959C>T	ENSP00000434560.2:p.Thr320Ile
ENST00000646564.2:c.776C>T	ENSP00000495806.2:p.Thr259Ile
ENST00000155840.12:c.1316C>T MANE Select	ENSP00000155840.2:p.Thr439Ile
ENST00000335475.6:c.935C>T	ENSP00000334497.5:p.Thr312Ile
ENST00000646564.1:c.422C>T	ENSP00000495806.1:p.Thr141Ile
ENST00000155840.9:c.1316C>T	ENSP00000155840.2:p.Thr439Ile
ENST00000335475.5:c.935C>T	ENSP00000334497.5:p.Thr312Ile
NM_000218.2:c.1316C>T , LRG_287t1:c.1316C>T	NP_000209.2:p.Thr439Ile
NM_181798.1:c.935C>T , LRG_287t2:c.935C>T	NP_861463.1:p.Thr312Ile
NM_000218.3:c.1316C>T MANE Select	NP_000209.2:p.Thr439Ile