Canonical Allele Identifier: CA379139141

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2797230A>G (hg19) ; chr11:g.2776000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776000A>G , CM000673.2:g.2776000A>G	GRCh38
NC_000011.9:g.2797230A>G , CM000673.1:g.2797230A>G	GRCh37
NC_000011.8:g.2753806A>G	NCBI36
NG_008935.1:g.336010A>G , LRG_287:g.336010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1274A>G	ENSP00000434560.2:p.Gln425Arg
ENST00000646564.2:c.1091A>G	ENSP00000495806.2:p.Gln364Arg
ENST00000155840.12:c.1631A>G MANE Select	ENSP00000155840.2:p.Gln544Arg
ENST00000335475.6:c.1250A>G	ENSP00000334497.5:p.Gln417Arg
ENST00000646564.1:c.737A>G	ENSP00000495806.1:p.Gln246Arg
ENST00000155840.9:c.1631A>G	ENSP00000155840.2:p.Gln544Arg
ENST00000335475.5:c.1250A>G	ENSP00000334497.5:p.Gln417Arg
NM_000218.2:c.1631A>G , LRG_287t1:c.1631A>G	NP_000209.2:p.Gln544Arg
NM_181798.1:c.1250A>G , LRG_287t2:c.1250A>G	NP_861463.1:p.Gln417Arg
NM_000218.3:c.1631A>G MANE Select	NP_000209.2:p.Gln544Arg