Canonical Allele Identifier: CA379132984

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604692G>C (hg19) ; chr11:g.2583462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583462G>C , CM000673.2:g.2583462G>C	GRCh38
NC_000011.9:g.2604692G>C , CM000673.1:g.2604692G>C	GRCh37
NC_000011.8:g.2561268G>C	NCBI36
NG_008935.1:g.143472G>C , LRG_287:g.143472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.688G>C	ENSP00000434560.2:p.Asp230His
ENST00000646564.2:c.505G>C	ENSP00000495806.2:p.Asp169His
ENST00000155840.12:c.949G>C MANE Select	ENSP00000155840.2:p.Asp317His
ENST00000335475.6:c.568G>C	ENSP00000334497.5:p.Asp190His
ENST00000646564.1:c.151G>C	ENSP00000495806.1:p.Asp51His
ENST00000155840.9:c.949G>C	ENSP00000155840.2:p.Asp317His
ENST00000335475.5:c.568G>C	ENSP00000334497.5:p.Asp190His
NM_000218.2:c.949G>C , LRG_287t1:c.949G>C	NP_000209.2:p.Asp317His
NM_181798.1:c.568G>C , LRG_287t2:c.568G>C	NP_861463.1:p.Asp190His
NM_000218.3:c.949G>C MANE Select	NP_000209.2:p.Asp317His