Canonical Allele Identifier: CA379131412

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2594120C>A (hg19) ; chr11:g.2572890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572890C>A , CM000673.2:g.2572890C>A	GRCh38
NC_000011.9:g.2594120C>A , CM000673.1:g.2594120C>A	GRCh37
NC_000011.8:g.2550696C>A	NCBI36
NG_008935.1:g.132900C>A , LRG_287:g.132900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.564C>A	ENSP00000434560.2:p.Phe188Leu
ENST00000646564.2:c.478-10545C>A	ENSP00000495806.2:n.478-10545C>A
ENST00000155840.12:c.825C>A MANE Select	ENSP00000155840.2:p.Phe275Leu
ENST00000335475.6:c.444C>A	ENSP00000334497.5:p.Phe148Leu
ENST00000646564.1:c.124-10545C>A	ENSP00000495806.1:n.124-10545C>A
ENST00000155840.9:c.825C>A	ENSP00000155840.2:p.Phe275Leu
ENST00000335475.5:c.444C>A	ENSP00000334497.5:p.Phe148Leu
ENST00000496887.6:c.564C>A	ENSP00000434560.1:p.Phe188Leu
NM_000218.2:c.825C>A , LRG_287t1:c.825C>A	NP_000209.2:p.Phe275Leu
NM_181798.1:c.444C>A , LRG_287t2:c.444C>A	NP_861463.1:p.Phe148Leu
NM_000218.3:c.825C>A MANE Select	NP_000209.2:p.Phe275Leu