Canonical Allele Identifier: CA597110991

Gene: KCNQ1

Linked Data

• dbSNP Id: rs746244563
• gnomAD v2: 11-2608752-C-G
• gnomAD v4: 11-2587522-C-G
• MyVariant Identifiers: chr11:g.2608752C>G (hg19) ; chr11:g.2587522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587522C>G , CM000673.2:g.2587522C>G	GRCh38
NC_000011.9:g.2608752C>G , CM000673.1:g.2608752C>G	GRCh37
NC_000011.8:g.2565328C>G	NCBI36
NG_008935.1:g.147532C>G , LRG_287:g.147532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.772-48C>G	ENSP00000434560.2:n.772-48C>G
ENST00000646564.2:c.589-48C>G	ENSP00000495806.2:n.589-48C>G
ENST00000155840.12:c.1129-48C>G MANE Select	ENSP00000155840.2:n.1129-48C>G
ENST00000335475.6:c.748-48C>G	ENSP00000334497.5:n.748-48C>G
ENST00000646564.1:c.235-48C>G	ENSP00000495806.1:n.235-48C>G
ENST00000155840.9:c.1129-48C>G	ENSP00000155840.2:n.1129-48C>G
ENST00000335475.5:c.748-48C>G	ENSP00000334497.5:n.748-48C>G
NM_000218.2:c.1129-48C>G , LRG_287t1:c.1129-48C>G	NP_000209.2:n.1129-48C>G
NM_181798.1:c.748-48C>G , LRG_287t2:c.748-48C>G	NP_861463.1:n.748-48C>G
NM_000218.3:c.1129-48C>G MANE Select	NP_000209.2:n.1129-48C>G