Canonical Allele Identifier: CA379130934

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2429687
• ClinVar RCV Id: RCV003127141
• MyVariant Identifiers: chr11:g.2593263T>C (hg19) ; chr11:g.2572033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572033T>C , CM000673.2:g.2572033T>C	GRCh38
NC_000011.9:g.2593263T>C , CM000673.1:g.2593263T>C	GRCh37
NC_000011.8:g.2549839T>C	NCBI36
NG_008935.1:g.132043T>C , LRG_287:g.132043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.443T>C	ENSP00000434560.2:p.Ile148Thr
ENST00000646564.2:c.478-11402T>C	ENSP00000495806.2:n.478-11402T>C
ENST00000155840.12:c.704T>C MANE Select	ENSP00000155840.2:p.Ile235Thr
ENST00000335475.6:c.323T>C	ENSP00000334497.5:p.Ile108Thr
ENST00000646564.1:c.124-11402T>C	ENSP00000495806.1:n.124-11402T>C
ENST00000155840.9:c.704T>C	ENSP00000155840.2:p.Ile235Thr
ENST00000335475.5:c.323T>C	ENSP00000334497.5:p.Ile108Thr
ENST00000496887.6:c.443T>C	ENSP00000434560.1:p.Ile148Thr
NM_000218.2:c.704T>C , LRG_287t1:c.704T>C	NP_000209.2:p.Ile235Thr
NM_181798.1:c.323T>C , LRG_287t2:c.323T>C	NP_861463.1:p.Ile108Thr
NM_000218.3:c.704T>C MANE Select	NP_000209.2:p.Ile235Thr