Canonical Allele Identifier: CA028774

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 219923
• ClinVar RCV Id: RCV000206878 ; RCV002381704
• dbSNP Id: rs12720449
• ExAC: 11:2610034 C / A
• gnomAD v2: 11-2610034-C-A
• gnomAD v3: 11-2588804-C-A
• gnomAD v4: 11-2588804-C-A
• MyVariant Identifiers: chr11:g.2610034C>A (hg19) ; chr11:g.2588804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588804C>A , CM000673.2:g.2588804C>A	GRCh38
NC_000011.9:g.2610034C>A , CM000673.1:g.2610034C>A	GRCh37
NC_000011.8:g.2566610C>A	NCBI36
NG_008935.1:g.148814C>A , LRG_287:g.148814C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.986C>A	ENSP00000434560.2:p.Pro329Gln
ENST00000646564.2:c.803C>A	ENSP00000495806.2:p.Pro268Gln
ENST00000155840.12:c.1343C>A MANE Select	ENSP00000155840.2:p.Pro448Gln
ENST00000335475.6:c.962C>A	ENSP00000334497.5:p.Pro321Gln
ENST00000646564.1:c.449C>A	ENSP00000495806.1:p.Pro150Gln
ENST00000155840.9:c.1343C>A	ENSP00000155840.2:p.Pro448Gln
ENST00000335475.5:c.962C>A	ENSP00000334497.5:p.Pro321Gln
NM_000218.2:c.1343C>A , LRG_287t1:c.1343C>A	NP_000209.2:p.Pro448Gln
NM_181798.1:c.962C>A , LRG_287t2:c.962C>A	NP_861463.1:p.Pro321Gln
NM_000218.3:c.1343C>A MANE Select	NP_000209.2:p.Pro448Gln