Canonical Allele Identifier: CA379134716

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587607C>T , CM000673.2:g.2587607C>T	GRCh38
NC_000011.9:g.2608837C>T , CM000673.1:g.2608837C>T	GRCh37
NC_000011.8:g.2565413C>T	NCBI36
NG_008935.1:g.147617C>T , LRG_287:g.147617C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1166C>T MANE Select	NP_000209.2:p.Ser389Phe
ENST00000155840.12:c.1166C>T MANE Select	ENSP00000155840.2:p.Ser389Phe
NM_000218.2:c.1166C>T , LRG_287t1:c.1166C>T	NP_000209.2:p.Ser389Phe
NM_181798.1:c.785C>T , LRG_287t2:c.785C>T	NP_861463.1:p.Ser262Phe
ENST00000155840.9:c.1166C>T	ENSP00000155840.2:p.Ser389Phe
ENST00000335475.5:c.785C>T	ENSP00000334497.5:p.Ser262Phe
ENST00000335475.6:c.785C>T	ENSP00000334497.5:p.Ser262Phe
ENST00000496887.7:c.809C>T	ENSP00000434560.2:p.Ser270Phe
ENST00000646564.1:c.272C>T	ENSP00000495806.1:p.Ser91Phe
ENST00000646564.2:c.626C>T	ENSP00000495806.2:p.Ser209Phe