Canonical Allele Identifier: CA379130556

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2592596G>T (hg19) ; chr11:g.2571366G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571366G>T , CM000673.2:g.2571366G>T	GRCh38
NC_000011.9:g.2592596G>T , CM000673.1:g.2592596G>T	GRCh37
NC_000011.8:g.2549172G>T	NCBI36
NG_008935.1:g.131376G>T , LRG_287:g.131376G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.385G>T	ENSP00000434560.2:p.Gly129Cys
ENST00000646564.2:c.478-12069G>T	ENSP00000495806.2:n.478-12069G>T
ENST00000155840.12:c.646G>T MANE Select	ENSP00000155840.2:p.Gly216Cys
ENST00000335475.6:c.265G>T	ENSP00000334497.5:p.Gly89Cys
ENST00000646564.1:c.124-12069G>T	ENSP00000495806.1:n.124-12069G>T
ENST00000155840.9:c.646G>T	ENSP00000155840.2:p.Gly216Cys
ENST00000335475.5:c.265G>T	ENSP00000334497.5:p.Gly89Cys
ENST00000496887.6:c.385G>T	ENSP00000434560.1:p.Gly129Cys
NM_000218.2:c.646G>T , LRG_287t1:c.646G>T	NP_000209.2:p.Gly216Cys
NM_181798.1:c.265G>T , LRG_287t2:c.265G>T	NP_861463.1:p.Gly89Cys
NM_000218.3:c.646G>T MANE Select	NP_000209.2:p.Gly216Cys