Canonical Allele Identifier: CA379132989

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604695A>C (hg19) ; chr11:g.2583465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583465A>C , CM000673.2:g.2583465A>C	GRCh38
NC_000011.9:g.2604695A>C , CM000673.1:g.2604695A>C	GRCh37
NC_000011.8:g.2561271A>C	NCBI36
NG_008935.1:g.143475A>C , LRG_287:g.143475A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.691A>C	ENSP00000434560.2:p.Lys231Gln
ENST00000646564.2:c.508A>C	ENSP00000495806.2:p.Lys170Gln
ENST00000155840.12:c.952A>C MANE Select	ENSP00000155840.2:p.Lys318Gln
ENST00000335475.6:c.571A>C	ENSP00000334497.5:p.Lys191Gln
ENST00000646564.1:c.154A>C	ENSP00000495806.1:p.Lys52Gln
ENST00000155840.9:c.952A>C	ENSP00000155840.2:p.Lys318Gln
ENST00000335475.5:c.571A>C	ENSP00000334497.5:p.Lys191Gln
NM_000218.2:c.952A>C , LRG_287t1:c.952A>C	NP_000209.2:p.Lys318Gln
NM_181798.1:c.571A>C , LRG_287t2:c.571A>C	NP_861463.1:p.Lys191Gln
NM_000218.3:c.952A>C MANE Select	NP_000209.2:p.Lys318Gln