Canonical Allele Identifier: CA379130098

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2591976C>T (hg19) ; chr11:g.2570746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570746C>T , CM000673.2:g.2570746C>T	GRCh38
NC_000011.9:g.2591976C>T , CM000673.1:g.2591976C>T	GRCh37
NC_000011.8:g.2548552C>T	NCBI36
NG_008935.1:g.130756C>T , LRG_287:g.130756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.335C>T	ENSP00000434560.2:p.Ser112Phe
ENST00000646564.2:c.478-12689C>T	ENSP00000495806.2:n.478-12689C>T
ENST00000155840.12:c.596C>T MANE Select	ENSP00000155840.2:p.Ser199Phe
ENST00000335475.6:c.215C>T	ENSP00000334497.5:p.Ser72Phe
ENST00000646564.1:c.124-12689C>T	ENSP00000495806.1:n.124-12689C>T
ENST00000155840.9:c.596C>T	ENSP00000155840.2:p.Ser199Phe
ENST00000335475.5:c.215C>T	ENSP00000334497.5:p.Ser72Phe
ENST00000496887.6:c.335C>T	ENSP00000434560.1:p.Ser112Phe
NM_000218.2:c.596C>T , LRG_287t1:c.596C>T	NP_000209.2:p.Ser199Phe
NM_181798.1:c.215C>T , LRG_287t2:c.215C>T	NP_861463.1:p.Ser72Phe
NM_000218.3:c.596C>T MANE Select	NP_000209.2:p.Ser199Phe