Canonical Allele Identifier: CA379134835

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608900C>G (hg19) ; chr11:g.2587670C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587670C>G , CM000673.2:g.2587670C>G	GRCh38
NC_000011.9:g.2608900C>G , CM000673.1:g.2608900C>G	GRCh37
NC_000011.8:g.2565476C>G	NCBI36
NG_008935.1:g.147680C>G , LRG_287:g.147680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.872C>G	ENSP00000434560.2:p.Pro291Arg
ENST00000646564.2:c.689C>G	ENSP00000495806.2:p.Pro230Arg
ENST00000155840.12:c.1229C>G MANE Select	ENSP00000155840.2:p.Pro410Arg
ENST00000335475.6:c.848C>G	ENSP00000334497.5:p.Pro283Arg
ENST00000646564.1:c.335C>G	ENSP00000495806.1:p.Pro112Arg
ENST00000155840.9:c.1229C>G	ENSP00000155840.2:p.Pro410Arg
ENST00000335475.5:c.848C>G	ENSP00000334497.5:p.Pro283Arg
NM_000218.2:c.1229C>G , LRG_287t1:c.1229C>G	NP_000209.2:p.Pro410Arg
NM_181798.1:c.848C>G , LRG_287t2:c.848C>G	NP_861463.1:p.Pro283Arg
NM_000218.3:c.1229C>G MANE Select	NP_000209.2:p.Pro410Arg