Canonical Allele Identifier: CA379134749

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608854T>G (hg19) ; chr11:g.2587624T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587624T>G , CM000673.2:g.2587624T>G	GRCh38
NC_000011.9:g.2608854T>G , CM000673.1:g.2608854T>G	GRCh37
NC_000011.8:g.2565430T>G	NCBI36
NG_008935.1:g.147634T>G , LRG_287:g.147634T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.826T>G	ENSP00000434560.2:p.Tyr276Asp
ENST00000646564.2:c.643T>G	ENSP00000495806.2:p.Tyr215Asp
ENST00000155840.12:c.1183T>G MANE Select	ENSP00000155840.2:p.Tyr395Asp
ENST00000335475.6:c.802T>G	ENSP00000334497.5:p.Tyr268Asp
ENST00000646564.1:c.289T>G	ENSP00000495806.1:p.Tyr97Asp
ENST00000155840.9:c.1183T>G	ENSP00000155840.2:p.Tyr395Asp
ENST00000335475.5:c.802T>G	ENSP00000334497.5:p.Tyr268Asp
NM_000218.2:c.1183T>G , LRG_287t1:c.1183T>G	NP_000209.2:p.Tyr395Asp
NM_181798.1:c.802T>G , LRG_287t2:c.802T>G	NP_861463.1:p.Tyr268Asp
NM_000218.3:c.1183T>G MANE Select	NP_000209.2:p.Tyr395Asp