Canonical Allele Identifier: CA472039010

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608805A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587575A>C , CM000673.2:g.2587575A>C	GRCh38
NC_000011.9:g.2608805A>C , CM000673.1:g.2608805A>C	GRCh37
NC_000011.8:g.2565381A>C	NCBI36
NG_008935.1:g.147585A>C , LRG_287:g.147585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.777A>C	ENSP00000434560.2:p.Ala259=
ENST00000646564.2:c.594A>C	ENSP00000495806.2:p.Ala198=
ENST00000155840.12:c.1134A>C MANE Select	ENSP00000155840.2:p.Ala378=
ENST00000335475.6:c.753A>C	ENSP00000334497.5:p.Ala251=
ENST00000646564.1:c.240A>C	ENSP00000495806.1:p.Ala80=
ENST00000155840.9:c.1134A>C	ENSP00000155840.2:p.Ala378=
ENST00000335475.5:c.753A>C	ENSP00000334497.5:p.Ala251=
NM_000218.2:c.1134A>C , LRG_287t1:c.1134A>C	NP_000209.2:p.Ala378=
NM_181798.1:c.753A>C , LRG_287t2:c.753A>C	NP_861463.1:p.Ala251=
NM_000218.3:c.1134A>C MANE Select	NP_000209.2:p.Ala378=