Canonical Allele Identifier: CA674945495

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1381689800
• gnomAD v3: 11-2587498-A-G
• gnomAD v4: 11-2587498-A-G
• MyVariant Identifiers: chr11:g.2608728A>G (hg19) ; chr11:g.2587498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587498A>G , CM000673.2:g.2587498A>G	GRCh38
NC_000011.9:g.2608728A>G , CM000673.1:g.2608728A>G	GRCh37
NC_000011.8:g.2565304A>G	NCBI36
NG_008935.1:g.147508A>G , LRG_287:g.147508A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.772-72A>G	ENSP00000434560.2:n.772-72A>G
ENST00000646564.2:c.589-72A>G	ENSP00000495806.2:n.589-72A>G
ENST00000155840.12:c.1129-72A>G MANE Select	ENSP00000155840.2:n.1129-72A>G
ENST00000335475.6:c.748-72A>G	ENSP00000334497.5:n.748-72A>G
ENST00000646564.1:c.235-72A>G	ENSP00000495806.1:n.235-72A>G
ENST00000155840.9:c.1129-72A>G	ENSP00000155840.2:n.1129-72A>G
ENST00000335475.5:c.748-72A>G	ENSP00000334497.5:n.748-72A>G
NM_000218.2:c.1129-72A>G , LRG_287t1:c.1129-72A>G	NP_000209.2:n.1129-72A>G
NM_181798.1:c.748-72A>G , LRG_287t2:c.748-72A>G	NP_861463.1:n.748-72A>G
NM_000218.3:c.1129-72A>G MANE Select	NP_000209.2:n.1129-72A>G