Canonical Allele Identifier: CA007599

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570725G>C , CM000673.2:g.2570725G>C	GRCh38
NC_000011.9:g.2591955G>C , CM000673.1:g.2591955G>C	GRCh37
NC_000011.8:g.2548531G>C	NCBI36
NG_008935.1:g.130735G>C , LRG_287:g.130735G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.575G>C MANE Select	NP_000209.2:p.Arg192Pro
ENST00000155840.12:c.575G>C MANE Select	ENSP00000155840.2:p.Arg192Pro
NM_000218.2:c.575G>C , LRG_287t1:c.575G>C	NP_000209.2:p.Arg192Pro
NM_181798.1:c.194G>C , LRG_287t2:c.194G>C	NP_861463.1:p.Arg65Pro
ENST00000155840.9:c.575G>C	ENSP00000155840.2:p.Arg192Pro
ENST00000335475.5:c.194G>C	ENSP00000334497.5:p.Arg65Pro
ENST00000335475.6:c.194G>C	ENSP00000334497.5:p.Arg65Pro
ENST00000496887.6:c.314G>C	ENSP00000434560.1:p.Arg105Pro
ENST00000496887.7:c.314G>C	ENSP00000434560.2:p.Arg105Pro
ENST00000646564.1:c.124-12710G>C	ENSP00000495806.1:n.124-12710G>C
ENST00000646564.2:c.478-12710G>C	ENSP00000495806.2:n.478-12710G>C