Canonical Allele Identifier: CA472038092

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593321G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572091G>A , CM000673.2:g.2572091G>A	GRCh38
NC_000011.9:g.2593321G>A , CM000673.1:g.2593321G>A	GRCh37
NC_000011.8:g.2549897G>A	NCBI36
NG_008935.1:g.132101G>A , LRG_287:g.132101G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.501G>A	ENSP00000434560.2:p.Val167=
ENST00000646564.2:c.478-11344G>A	ENSP00000495806.2:n.478-11344G>A
ENST00000155840.12:c.762G>A MANE Select	ENSP00000155840.2:p.Val254=
ENST00000335475.6:c.381G>A	ENSP00000334497.5:p.Val127=
ENST00000646564.1:c.124-11344G>A	ENSP00000495806.1:n.124-11344G>A
ENST00000155840.9:c.762G>A	ENSP00000155840.2:p.Val254=
ENST00000335475.5:c.381G>A	ENSP00000334497.5:p.Val127=
ENST00000496887.6:c.501G>A	ENSP00000434560.1:p.Val167=
NM_000218.2:c.762G>A , LRG_287t1:c.762G>A	NP_000209.2:p.Val254=
NM_181798.1:c.381G>A , LRG_287t2:c.381G>A	NP_861463.1:p.Val127=
NM_000218.3:c.762G>A MANE Select	NP_000209.2:p.Val254=