Canonical Allele Identifier: CA472039935

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2720380
• ClinVar RCV Id: RCV003534201
• MyVariant Identifiers: chr11:g.2610050G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588820G>A , CM000673.2:g.2588820G>A	GRCh38
NC_000011.9:g.2610050G>A , CM000673.1:g.2610050G>A	GRCh37
NC_000011.8:g.2566626G>A	NCBI36
NG_008935.1:g.148830G>A , LRG_287:g.148830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1002G>A	ENSP00000434560.2:p.Leu334=
ENST00000646564.2:c.819G>A	ENSP00000495806.2:p.Leu273=
ENST00000155840.12:c.1359G>A MANE Select	ENSP00000155840.2:p.Leu453=
ENST00000335475.6:c.978G>A	ENSP00000334497.5:p.Leu326=
ENST00000646564.1:c.465G>A	ENSP00000495806.1:p.Leu155=
ENST00000155840.9:c.1359G>A	ENSP00000155840.2:p.Leu453=
ENST00000335475.5:c.978G>A	ENSP00000334497.5:p.Leu326=
NM_000218.2:c.1359G>A , LRG_287t1:c.1359G>A	NP_000209.2:p.Leu453=
NM_181798.1:c.978G>A , LRG_287t2:c.978G>A	NP_861463.1:p.Leu326=
NM_000218.3:c.1359G>A MANE Select	NP_000209.2:p.Leu453=