Canonical Allele Identifier: CA379138972

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2000331
• ClinVar RCV Id: RCV002824447
• MyVariant Identifiers: chr11:g.2790118T>A (hg19) ; chr11:g.2768888T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768888T>A , CM000673.2:g.2768888T>A	GRCh38
NC_000011.9:g.2790118T>A , CM000673.1:g.2790118T>A	GRCh37
NC_000011.8:g.2746694T>A	NCBI36
NG_008935.1:g.328898T>A , LRG_287:g.328898T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1202T>A	ENSP00000434560.2:p.Met401Lys
ENST00000646564.2:c.1019T>A	ENSP00000495806.2:p.Met340Lys
ENST00000155840.12:c.1559T>A MANE Select	ENSP00000155840.2:p.Met520Lys
ENST00000335475.6:c.1178T>A	ENSP00000334497.5:p.Met393Lys
ENST00000646564.1:c.665T>A	ENSP00000495806.1:p.Met222Lys
ENST00000155840.9:c.1559T>A	ENSP00000155840.2:p.Met520Lys
ENST00000335475.5:c.1178T>A	ENSP00000334497.5:p.Met393Lys
NM_000218.2:c.1559T>A , LRG_287t1:c.1559T>A	NP_000209.2:p.Met520Lys
NM_181798.1:c.1178T>A , LRG_287t2:c.1178T>A	NP_861463.1:p.Met393Lys
NM_000218.3:c.1559T>A MANE Select	NP_000209.2:p.Met520Lys