Canonical Allele Identifier: CA1948243200

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572897T= , CM000673.2:g.2572897T=	GRCh38
NC_000011.9:g.2594127T= , CM000673.1:g.2594127T=	GRCh37
NC_000011.8:g.2550703T=	NCBI36
NG_008935.1:g.132907T= , LRG_287:g.132907T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.571T=	ENSP00000434560.2:p.Tyr191=
ENST00000646564.2:c.478-10538T=	ENSP00000495806.2:n.478-10538T=
ENST00000155840.12:c.832T= MANE Select	ENSP00000155840.2:p.Tyr278=
ENST00000335475.6:c.451T=	ENSP00000334497.5:p.Tyr151=
ENST00000646564.1:c.124-10538T=	ENSP00000495806.1:n.124-10538T=
ENST00000155840.9:c.832T=	ENSP00000155840.2:p.Tyr278=
ENST00000335475.5:c.451T=	ENSP00000334497.5:p.Tyr151=
ENST00000496887.6:c.571T=	ENSP00000434560.1:p.Tyr191=
NM_000218.2:c.832T= , LRG_287t1:c.832T=	NP_000209.2:p.Tyr278=
NM_181798.1:c.451T= , LRG_287t2:c.451T=	NP_861463.1:p.Tyr151=
NM_000218.3:c.832T= MANE Select	NP_000209.2:p.Tyr278=