Canonical Allele Identifier: CA379131076

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1218671101
• gnomAD v2: 11-2593328-A-G
• gnomAD v4: 11-2572098-A-G
• MyVariant Identifiers: chr11:g.2593328A>G (hg19) ; chr11:g.2572098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572098A>G , CM000673.2:g.2572098A>G	GRCh38
NC_000011.9:g.2593328A>G , CM000673.1:g.2593328A>G	GRCh37
NC_000011.8:g.2549904A>G	NCBI36
NG_008935.1:g.132108A>G , LRG_287:g.132108A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.508A>G	ENSP00000434560.2:p.Ile170Val
ENST00000646564.2:c.478-11337A>G	ENSP00000495806.2:n.478-11337A>G
ENST00000155840.12:c.769A>G MANE Select	ENSP00000155840.2:p.Ile257Val
ENST00000335475.6:c.388A>G	ENSP00000334497.5:p.Ile130Val
ENST00000646564.1:c.124-11337A>G	ENSP00000495806.1:n.124-11337A>G
ENST00000155840.9:c.769A>G	ENSP00000155840.2:p.Ile257Val
ENST00000335475.5:c.388A>G	ENSP00000334497.5:p.Ile130Val
ENST00000496887.6:c.508A>G	ENSP00000434560.1:p.Ile170Val
NM_000218.2:c.769A>G , LRG_287t1:c.769A>G	NP_000209.2:p.Ile257Val
NM_181798.1:c.388A>G , LRG_287t2:c.388A>G	NP_861463.1:p.Ile130Val
NM_000218.3:c.769A>G MANE Select	NP_000209.2:p.Ile257Val