Canonical Allele Identifier: CA379138974

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1044140
• ClinVar RCV Id: RCV001348348 ; RCV001762592
• dbSNP Id: rs1846543163
• MyVariant Identifiers: chr11:g.2790119G>A (hg19) ; chr11:g.2768889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768889G>A , CM000673.2:g.2768889G>A	GRCh38
NC_000011.9:g.2790119G>A , CM000673.1:g.2790119G>A	GRCh37
NC_000011.8:g.2746695G>A	NCBI36
NG_008935.1:g.328899G>A , LRG_287:g.328899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1203G>A	ENSP00000434560.2:p.Met401Ile
ENST00000646564.2:c.1020G>A	ENSP00000495806.2:p.Met340Ile
ENST00000155840.12:c.1560G>A MANE Select	ENSP00000155840.2:p.Met520Ile
ENST00000335475.6:c.1179G>A	ENSP00000334497.5:p.Met393Ile
ENST00000646564.1:c.666G>A	ENSP00000495806.1:p.Met222Ile
ENST00000155840.9:c.1560G>A	ENSP00000155840.2:p.Met520Ile
ENST00000335475.5:c.1179G>A	ENSP00000334497.5:p.Met393Ile
NM_000218.2:c.1560G>A , LRG_287t1:c.1560G>A	NP_000209.2:p.Met520Ile
NM_181798.1:c.1179G>A , LRG_287t2:c.1179G>A	NP_861463.1:p.Met393Ile
NM_000218.3:c.1560G>A MANE Select	NP_000209.2:p.Met520Ile