Canonical Allele Identifier: CA5822079

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587636G>T , CM000673.2:g.2587636G>T	GRCh38
NC_000011.9:g.2608866G>T , CM000673.1:g.2608866G>T	GRCh37
NC_000011.8:g.2565442G>T	NCBI36
NG_008935.1:g.147646G>T , LRG_287:g.147646G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1195G>T MANE Select	NP_000209.2:p.Ala399Ser
ENST00000155840.12:c.1195G>T MANE Select	ENSP00000155840.2:p.Ala399Ser
NM_000218.2:c.1195G>T , LRG_287t1:c.1195G>T	NP_000209.2:p.Ala399Ser
NM_181798.1:c.814G>T , LRG_287t2:c.814G>T	NP_861463.1:p.Ala272Ser
ENST00000155840.9:c.1195G>T	ENSP00000155840.2:p.Ala399Ser
ENST00000335475.5:c.814G>T	ENSP00000334497.5:p.Ala272Ser
ENST00000335475.6:c.814G>T	ENSP00000334497.5:p.Ala272Ser
ENST00000496887.7:c.838G>T	ENSP00000434560.2:p.Ala280Ser
ENST00000646564.1:c.301G>T	ENSP00000495806.1:p.Ala101Ser
ENST00000646564.2:c.655G>T	ENSP00000495806.2:p.Ala219Ser