Canonical Allele Identifier: CA379134741

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608851A>G (hg19) ; chr11:g.2587621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587621A>G , CM000673.2:g.2587621A>G	GRCh38
NC_000011.9:g.2608851A>G , CM000673.1:g.2608851A>G	GRCh37
NC_000011.8:g.2565427A>G	NCBI36
NG_008935.1:g.147631A>G , LRG_287:g.147631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.823A>G	ENSP00000434560.2:p.Ile275Val
ENST00000646564.2:c.640A>G	ENSP00000495806.2:p.Ile214Val
ENST00000155840.12:c.1180A>G MANE Select	ENSP00000155840.2:p.Ile394Val
ENST00000335475.6:c.799A>G	ENSP00000334497.5:p.Ile267Val
ENST00000646564.1:c.286A>G	ENSP00000495806.1:p.Ile96Val
ENST00000155840.9:c.1180A>G	ENSP00000155840.2:p.Ile394Val
ENST00000335475.5:c.799A>G	ENSP00000334497.5:p.Ile267Val
NM_000218.2:c.1180A>G , LRG_287t1:c.1180A>G	NP_000209.2:p.Ile394Val
NM_181798.1:c.799A>G , LRG_287t2:c.799A>G	NP_861463.1:p.Ile267Val
NM_000218.3:c.1180A>G MANE Select	NP_000209.2:p.Ile394Val