Canonical Allele Identifier: CA379129893

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570682G>T , CM000673.2:g.2570682G>T	GRCh38
NC_000011.9:g.2591912G>T , CM000673.1:g.2591912G>T	GRCh37
NC_000011.8:g.2548488G>T	NCBI36
NG_008935.1:g.130692G>T , LRG_287:g.130692G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.532G>T MANE Select	NP_000209.2:p.Ala178Ser
ENST00000155840.12:c.532G>T MANE Select	ENSP00000155840.2:p.Ala178Ser
NM_000218.2:c.532G>T , LRG_287t1:c.532G>T	NP_000209.2:p.Ala178Ser
NM_181798.1:c.151G>T , LRG_287t2:c.151G>T	NP_861463.1:p.Ala51Ser
ENST00000155840.9:c.532G>T	ENSP00000155840.2:p.Ala178Ser
ENST00000335475.5:c.151G>T	ENSP00000334497.5:p.Ala51Ser
ENST00000335475.6:c.151G>T	ENSP00000334497.5:p.Ala51Ser
ENST00000496887.6:c.271G>T	ENSP00000434560.1:p.Ala91Ser
ENST00000496887.7:c.271G>T	ENSP00000434560.2:p.Ala91Ser
ENST00000646564.1:c.124-12753G>T	ENSP00000495806.1:n.124-12753G>T
ENST00000646564.2:c.478-12753G>T	ENSP00000495806.2:n.478-12753G>T