Canonical Allele Identifier: CA379138898

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790076T>G (hg19) ; chr11:g.2768846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768846T>G , CM000673.2:g.2768846T>G	GRCh38
NC_000011.9:g.2790076T>G , CM000673.1:g.2790076T>G	GRCh37
NC_000011.8:g.2746652T>G	NCBI36
NG_008935.1:g.328856T>G , LRG_287:g.328856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1160T>G	ENSP00000434560.2:p.Leu387Arg
ENST00000646564.2:c.977T>G	ENSP00000495806.2:p.Leu326Arg
ENST00000155840.12:c.1517T>G MANE Select	ENSP00000155840.2:p.Leu506Arg
ENST00000335475.6:c.1136T>G	ENSP00000334497.5:p.Leu379Arg
ENST00000646564.1:c.623T>G	ENSP00000495806.1:p.Leu208Arg
ENST00000155840.9:c.1517T>G	ENSP00000155840.2:p.Leu506Arg
ENST00000335475.5:c.1136T>G	ENSP00000334497.5:p.Leu379Arg
NM_000218.2:c.1517T>G , LRG_287t1:c.1517T>G	NP_000209.2:p.Leu506Arg
NM_181798.1:c.1136T>G , LRG_287t2:c.1136T>G	NP_861463.1:p.Leu379Arg
NM_000218.3:c.1517T>G MANE Select	NP_000209.2:p.Leu506Arg