Canonical Allele Identifier: CA379134680

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608819C>T (hg19) ; chr11:g.2587589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587589C>T , CM000673.2:g.2587589C>T	GRCh38
NC_000011.9:g.2608819C>T , CM000673.1:g.2608819C>T	GRCh37
NC_000011.8:g.2565395C>T	NCBI36
NG_008935.1:g.147599C>T , LRG_287:g.147599C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.791C>T	ENSP00000434560.2:p.Ala264Val
ENST00000646564.2:c.608C>T	ENSP00000495806.2:p.Ala203Val
ENST00000155840.12:c.1148C>T MANE Select	ENSP00000155840.2:p.Ala383Val
ENST00000335475.6:c.767C>T	ENSP00000334497.5:p.Ala256Val
ENST00000646564.1:c.254C>T	ENSP00000495806.1:p.Ala85Val
ENST00000155840.9:c.1148C>T	ENSP00000155840.2:p.Ala383Val
ENST00000335475.5:c.767C>T	ENSP00000334497.5:p.Ala256Val
NM_000218.2:c.1148C>T , LRG_287t1:c.1148C>T	NP_000209.2:p.Ala383Val
NM_181798.1:c.767C>T , LRG_287t2:c.767C>T	NP_861463.1:p.Ala256Val
NM_000218.3:c.1148C>T MANE Select	NP_000209.2:p.Ala383Val