Canonical Allele Identifier: CA379139058

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775960C>T , CM000673.2:g.2775960C>T	GRCh38
NC_000011.9:g.2797190C>T , CM000673.1:g.2797190C>T	GRCh37
NC_000011.8:g.2753766C>T	NCBI36
NG_008935.1:g.335970C>T , LRG_287:g.335970C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1591C>T MANE Select	NP_000209.2:p.Gln531Ter
ENST00000155840.12:c.1591C>T MANE Select	ENSP00000155840.2:p.Gln531Ter
NM_000218.2:c.1591C>T , LRG_287t1:c.1591C>T	NP_000209.2:p.Gln531Ter
NM_181798.1:c.1210C>T , LRG_287t2:c.1210C>T	NP_861463.1:p.Gln404Ter
ENST00000155840.9:c.1591C>T	ENSP00000155840.2:p.Gln531Ter
ENST00000335475.5:c.1210C>T	ENSP00000334497.5:p.Gln404Ter
ENST00000335475.6:c.1210C>T	ENSP00000334497.5:p.Gln404Ter
ENST00000496887.7:c.1234C>T	ENSP00000434560.2:p.Gln412Ter
ENST00000646564.1:c.697C>T	ENSP00000495806.1:p.Gln233Ter
ENST00000646564.2:c.1051C>T	ENSP00000495806.2:p.Gln351Ter