Canonical Allele Identifier: CA007107

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 138011
• ClinVar RCV Id: RCV000150864 ; RCV000243561 ; RCV000232615 ; RCV001842430
• dbSNP Id: rs146436765
• ExAC: 11:2549218 C / T
• gnomAD v2: 11-2549218-C-T
• gnomAD v3: 11-2527988-C-T
• gnomAD v4: 11-2527988-C-T
• MyVariant Identifiers: chr11:g.2549218C>T (hg19) ; chr11:g.2527988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527988C>T , CM000673.2:g.2527988C>T	GRCh38
NC_000011.9:g.2549218C>T , CM000673.1:g.2549218C>T	GRCh37
NC_000011.8:g.2505794C>T	NCBI36
NG_008935.1:g.87998C>T , LRG_287:g.87998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.186C>T	ENSP00000434560.2:p.Ala62=
ENST00000646564.2:c.447C>T	ENSP00000495806.2:p.Ala149=
ENST00000155840.12:c.447C>T MANE Select	ENSP00000155840.2:p.Ala149=
ENST00000335475.6:c.66C>T	ENSP00000334497.5:p.Ala22=
ENST00000646564.1:c.93C>T	ENSP00000495806.1:p.Ala31=
ENST00000155840.9:c.447C>T	ENSP00000155840.2:p.Ala149=
ENST00000335475.5:c.66C>T	ENSP00000334497.5:p.Ala22=
ENST00000496887.6:c.186C>T	ENSP00000434560.1:p.Ala62=
NM_000218.2:c.447C>T , LRG_287t1:c.447C>T	NP_000209.2:p.Ala149=
NM_181798.1:c.66C>T , LRG_287t2:c.66C>T	NP_861463.1:p.Ala22=
NM_000218.3:c.447C>T MANE Select	NP_000209.2:p.Ala149=