Canonical Allele Identifier: CA007786

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 42492
• ClinVar RCV Id: RCV000035348 ; RCV000057724 ; RCV001083578 ; RCV001841562 ; RCV004017282 ; RCV004534736
• dbSNP Id: rs75813654
• ExAC: 11:2592569 G / A
• gnomAD v2: 11-2592569-G-A
• gnomAD v3: 11-2571339-G-A
• gnomAD v4: 11-2571339-G-A
• MyVariant Identifiers: chr11:g.2592569G>A (hg19) ; chr11:g.2571339G>A (hg38)
• PubMed: PMID:14661677 ; PMID:19198868 ; PMID:19841300 ; PMID:20421371 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571339G>A , CM000673.2:g.2571339G>A	GRCh38
NC_000011.9:g.2592569G>A , CM000673.1:g.2592569G>A	GRCh37
NC_000011.8:g.2549145G>A	NCBI36
NG_008935.1:g.131349G>A , LRG_287:g.131349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.358G>A	ENSP00000434560.2:p.Val120Met
ENST00000646564.2:c.478-12096G>A	ENSP00000495806.2:n.478-12096G>A
ENST00000155840.12:c.619G>A MANE Select	ENSP00000155840.2:p.Val207Met
ENST00000335475.6:c.238G>A	ENSP00000334497.5:p.Val80Met
ENST00000646564.1:c.124-12096G>A	ENSP00000495806.1:n.124-12096G>A
ENST00000155840.9:c.619G>A	ENSP00000155840.2:p.Val207Met
ENST00000335475.5:c.238G>A	ENSP00000334497.5:p.Val80Met
ENST00000496887.6:c.358G>A	ENSP00000434560.1:p.Val120Met
NM_000218.2:c.619G>A , LRG_287t1:c.619G>A	NP_000209.2:p.Val207Met
NM_181798.1:c.238G>A , LRG_287t2:c.238G>A	NP_861463.1:p.Val80Met
NM_000218.3:c.619G>A MANE Select	NP_000209.2:p.Val207Met