Canonical Allele Identifier: CA379131791

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 922206
• ClinVar RCV Id: RCV001843115
• dbSNP Id: rs120074195
• gnomAD v2: 11-2594214-G-A
• gnomAD v4: 11-2572984-G-A
• MyVariant Identifiers: chr11:g.2594214G>A (hg19) ; chr11:g.2572984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572984G>A , CM000673.2:g.2572984G>A	GRCh38
NC_000011.9:g.2594214G>A , CM000673.1:g.2594214G>A	GRCh37
NC_000011.8:g.2550790G>A	NCBI36
NG_008935.1:g.132994G>A , LRG_287:g.132994G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.658G>A	ENSP00000434560.2:p.Val220Met
ENST00000646564.2:c.478-10451G>A	ENSP00000495806.2:n.478-10451G>A
ENST00000155840.12:c.919G>A MANE Select	ENSP00000155840.2:p.Val307Met
ENST00000335475.6:c.538G>A	ENSP00000334497.5:p.Val180Met
ENST00000646564.1:c.124-10451G>A	ENSP00000495806.1:n.124-10451G>A
ENST00000155840.9:c.919G>A	ENSP00000155840.2:p.Val307Met
ENST00000335475.5:c.538G>A	ENSP00000334497.5:p.Val180Met
NM_000218.2:c.919G>A , LRG_287t1:c.919G>A	NP_000209.2:p.Val307Met
NM_181798.1:c.538G>A , LRG_287t2:c.538G>A	NP_861463.1:p.Val180Met
NM_000218.3:c.919G>A MANE Select	NP_000209.2:p.Val307Met