Canonical Allele Identifier: CA379130920

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593255C>A (hg19) ; chr11:g.2572025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572025C>A , CM000673.2:g.2572025C>A	GRCh38
NC_000011.9:g.2593255C>A , CM000673.1:g.2593255C>A	GRCh37
NC_000011.8:g.2549831C>A	NCBI36
NG_008935.1:g.132035C>A , LRG_287:g.132035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.435C>A	ENSP00000434560.2:p.Phe145Leu
ENST00000646564.2:c.478-11410C>A	ENSP00000495806.2:n.478-11410C>A
ENST00000155840.12:c.696C>A MANE Select	ENSP00000155840.2:p.Phe232Leu
ENST00000335475.6:c.315C>A	ENSP00000334497.5:p.Phe105Leu
ENST00000646564.1:c.124-11410C>A	ENSP00000495806.1:n.124-11410C>A
ENST00000155840.9:c.696C>A	ENSP00000155840.2:p.Phe232Leu
ENST00000335475.5:c.315C>A	ENSP00000334497.5:p.Phe105Leu
ENST00000496887.6:c.435C>A	ENSP00000434560.1:p.Phe145Leu
NM_000218.2:c.696C>A , LRG_287t1:c.696C>A	NP_000209.2:p.Phe232Leu
NM_181798.1:c.315C>A , LRG_287t2:c.315C>A	NP_861463.1:p.Phe105Leu
NM_000218.3:c.696C>A MANE Select	NP_000209.2:p.Phe232Leu