Canonical Allele Identifier: CA379134789

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608877C>G (hg19) ; chr11:g.2587647C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587647C>G , CM000673.2:g.2587647C>G	GRCh38
NC_000011.9:g.2608877C>G , CM000673.1:g.2608877C>G	GRCh37
NC_000011.8:g.2565453C>G	NCBI36
NG_008935.1:g.147657C>G , LRG_287:g.147657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.849C>G	ENSP00000434560.2:p.Ser283Arg
ENST00000646564.2:c.666C>G	ENSP00000495806.2:p.Ser222Arg
ENST00000155840.12:c.1206C>G MANE Select	ENSP00000155840.2:p.Ser402Arg
ENST00000335475.6:c.825C>G	ENSP00000334497.5:p.Ser275Arg
ENST00000646564.1:c.312C>G	ENSP00000495806.1:p.Ser104Arg
ENST00000155840.9:c.1206C>G	ENSP00000155840.2:p.Ser402Arg
ENST00000335475.5:c.825C>G	ENSP00000334497.5:p.Ser275Arg
NM_000218.2:c.1206C>G , LRG_287t1:c.1206C>G	NP_000209.2:p.Ser402Arg
NM_181798.1:c.825C>G , LRG_287t2:c.825C>G	NP_861463.1:p.Ser275Arg
NM_000218.3:c.1206C>G MANE Select	NP_000209.2:p.Ser402Arg