Canonical Allele Identifier: CA379135034

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2610004T>A (hg19) ; chr11:g.2588774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588774T>A , CM000673.2:g.2588774T>A	GRCh38
NC_000011.9:g.2610004T>A , CM000673.1:g.2610004T>A	GRCh37
NC_000011.8:g.2566580T>A	NCBI36
NG_008935.1:g.148784T>A , LRG_287:g.148784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.956T>A	ENSP00000434560.2:p.Leu319His
ENST00000646564.2:c.773T>A	ENSP00000495806.2:p.Leu258His
ENST00000155840.12:c.1313T>A MANE Select	ENSP00000155840.2:p.Leu438His
ENST00000335475.6:c.932T>A	ENSP00000334497.5:p.Leu311His
ENST00000646564.1:c.419T>A	ENSP00000495806.1:p.Leu140His
ENST00000155840.9:c.1313T>A	ENSP00000155840.2:p.Leu438His
ENST00000335475.5:c.932T>A	ENSP00000334497.5:p.Leu311His
NM_000218.2:c.1313T>A , LRG_287t1:c.1313T>A	NP_000209.2:p.Leu438His
NM_181798.1:c.932T>A , LRG_287t2:c.932T>A	NP_861463.1:p.Leu311His
NM_000218.3:c.1313T>A MANE Select	NP_000209.2:p.Leu438His