Canonical Allele Identifier: CA1948236278

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588835C= , CM000673.2:g.2588835C=	GRCh38
NC_000011.9:g.2610065C= , CM000673.1:g.2610065C=	GRCh37
NC_000011.8:g.2566641C=	NCBI36
NG_008935.1:g.148845C= , LRG_287:g.148845C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1017C=	ENSP00000434560.2:p.Val339=
ENST00000646564.2:c.834C=	ENSP00000495806.2:p.Val278=
ENST00000155840.12:c.1374C= MANE Select	ENSP00000155840.2:p.Val458=
ENST00000335475.6:c.993C=	ENSP00000334497.5:p.Val331=
ENST00000646564.1:c.480C=	ENSP00000495806.1:p.Val160=
ENST00000155840.9:c.1374C=	ENSP00000155840.2:p.Val458=
ENST00000335475.5:c.993C=	ENSP00000334497.5:p.Val331=
NM_000218.2:c.1374C= , LRG_287t1:c.1374C=	NP_000209.2:p.Val458=
NM_181798.1:c.993C= , LRG_287t2:c.993C=	NP_861463.1:p.Val331=
NM_000218.3:c.1374C= MANE Select	NP_000209.2:p.Val458=