Canonical Allele Identifier: CA379132961

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604672T>G (hg19) ; chr11:g.2583442T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583442T>G , CM000673.2:g.2583442T>G	GRCh38
NC_000011.9:g.2604672T>G , CM000673.1:g.2604672T>G	GRCh37
NC_000011.8:g.2561248T>G	NCBI36
NG_008935.1:g.143452T>G , LRG_287:g.143452T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.668T>G	ENSP00000434560.2:p.Val223Gly
ENST00000646564.2:c.485T>G	ENSP00000495806.2:p.Val162Gly
ENST00000155840.12:c.929T>G MANE Select	ENSP00000155840.2:p.Val310Gly
ENST00000335475.6:c.548T>G	ENSP00000334497.5:p.Val183Gly
ENST00000646564.1:c.131T>G	ENSP00000495806.1:p.Val44Gly
ENST00000155840.9:c.929T>G	ENSP00000155840.2:p.Val310Gly
ENST00000335475.5:c.548T>G	ENSP00000334497.5:p.Val183Gly
NM_000218.2:c.929T>G , LRG_287t1:c.929T>G	NP_000209.2:p.Val310Gly
NM_181798.1:c.548T>G , LRG_287t2:c.548T>G	NP_861463.1:p.Val183Gly
NM_000218.3:c.929T>G MANE Select	NP_000209.2:p.Val310Gly