Canonical Allele Identifier: CA008895

Gene: KCNQ1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583467G>C , CM000673.2:g.2583467G>C	GRCh38
NC_000011.9:g.2604697G>C , CM000673.1:g.2604697G>C	GRCh37
NC_000011.8:g.2561273G>C	NCBI36
NG_008935.1:g.143477G>C , LRG_287:g.143477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.693G>C	ENSP00000434560.2:p.Lys231Asn
ENST00000646564.2:c.510G>C	ENSP00000495806.2:p.Lys170Asn
ENST00000155840.12:c.954G>C MANE Select	ENSP00000155840.2:p.Lys318Asn
ENST00000335475.6:c.573G>C	ENSP00000334497.5:p.Lys191Asn
ENST00000646564.1:c.156G>C	ENSP00000495806.1:p.Lys52Asn
ENST00000155840.9:c.954G>C	ENSP00000155840.2:p.Lys318Asn
ENST00000335475.5:c.573G>C	ENSP00000334497.5:p.Lys191Asn
NM_000218.2:c.954G>C , LRG_287t1:c.954G>C	NP_000209.2:p.Lys318Asn
NM_181798.1:c.573G>C , LRG_287t2:c.573G>C	NP_861463.1:p.Lys191Asn
NM_000218.3:c.954G>C MANE Select	NP_000209.2:p.Lys318Asn