Canonical Allele Identifier: CA379131084

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593329T>C (hg19) ; chr11:g.2572099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572099T>C , CM000673.2:g.2572099T>C	GRCh38
NC_000011.9:g.2593329T>C , CM000673.1:g.2593329T>C	GRCh37
NC_000011.8:g.2549905T>C	NCBI36
NG_008935.1:g.132109T>C , LRG_287:g.132109T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.509T>C	ENSP00000434560.2:p.Ile170Thr
ENST00000646564.2:c.478-11336T>C	ENSP00000495806.2:n.478-11336T>C
ENST00000155840.12:c.770T>C MANE Select	ENSP00000155840.2:p.Ile257Thr
ENST00000335475.6:c.389T>C	ENSP00000334497.5:p.Ile130Thr
ENST00000646564.1:c.124-11336T>C	ENSP00000495806.1:n.124-11336T>C
ENST00000155840.9:c.770T>C	ENSP00000155840.2:p.Ile257Thr
ENST00000335475.5:c.389T>C	ENSP00000334497.5:p.Ile130Thr
ENST00000496887.6:c.509T>C	ENSP00000434560.1:p.Ile170Thr
NM_000218.2:c.770T>C , LRG_287t1:c.770T>C	NP_000209.2:p.Ile257Thr
NM_181798.1:c.389T>C , LRG_287t2:c.389T>C	NP_861463.1:p.Ile130Thr
NM_000218.3:c.770T>C MANE Select	NP_000209.2:p.Ile257Thr