Canonical Allele Identifier: CA037819

Gene: KCNQ1

Linked Data

• dbSNP Id: rs781368619
• ExAC: 11:2591814 A / G
• gnomAD v2: 11-2591814-A-G
• gnomAD v4: 11-2570584-A-G
• MyVariant Identifiers: chr11:g.2591814A>G (hg19) ; chr11:g.2570584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570584A>G , CM000673.2:g.2570584A>G	GRCh38
NC_000011.9:g.2591814A>G , CM000673.1:g.2591814A>G	GRCh37
NC_000011.8:g.2548390A>G	NCBI36
NG_008935.1:g.130594A>G , LRG_287:g.130594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217-44A>G	ENSP00000434560.2:n.217-44A>G
ENST00000646564.2:c.478-12851A>G	ENSP00000495806.2:n.478-12851A>G
ENST00000155840.12:c.478-44A>G MANE Select	ENSP00000155840.2:n.478-44A>G
ENST00000335475.6:c.97-44A>G	ENSP00000334497.5:n.97-44A>G
ENST00000646564.1:c.124-12851A>G	ENSP00000495806.1:n.124-12851A>G
ENST00000155840.9:c.478-44A>G	ENSP00000155840.2:n.478-44A>G
ENST00000335475.5:c.97-44A>G	ENSP00000334497.5:n.97-44A>G
ENST00000496887.6:c.217-44A>G	ENSP00000434560.1:n.217-44A>G
NM_000218.2:c.478-44A>G , LRG_287t1:c.478-44A>G	NP_000209.2:n.478-44A>G
NM_181798.1:c.97-44A>G , LRG_287t2:c.97-44A>G	NP_861463.1:n.97-44A>G
NM_000218.3:c.478-44A>G MANE Select	NP_000209.2:n.478-44A>G