Canonical Allele Identifier: CA028962

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 227460
• ClinVar RCV Id: RCV000215583 ; RCV000864959 ; RCV001842970 ; RCV001506590
• dbSNP Id: rs778598703
• ExAC: 11:2610065 C / T
• gnomAD v2: 11-2610065-C-T
• gnomAD v3: 11-2588835-C-T
• gnomAD v4: 11-2588835-C-T
• MyVariant Identifiers: chr11:g.2610065C>T (hg19) ; chr11:g.2588835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588835C>T , CM000673.2:g.2588835C>T	GRCh38
NC_000011.9:g.2610065C>T , CM000673.1:g.2610065C>T	GRCh37
NC_000011.8:g.2566641C>T	NCBI36
NG_008935.1:g.148845C>T , LRG_287:g.148845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1017C>T	ENSP00000434560.2:p.Val339=
ENST00000646564.2:c.834C>T	ENSP00000495806.2:p.Val278=
ENST00000155840.12:c.1374C>T MANE Select	ENSP00000155840.2:p.Val458=
ENST00000335475.6:c.993C>T	ENSP00000334497.5:p.Val331=
ENST00000646564.1:c.480C>T	ENSP00000495806.1:p.Val160=
ENST00000155840.9:c.1374C>T	ENSP00000155840.2:p.Val458=
ENST00000335475.5:c.993C>T	ENSP00000334497.5:p.Val331=
NM_000218.2:c.1374C>T , LRG_287t1:c.1374C>T	NP_000209.2:p.Val458=
NM_181798.1:c.993C>T , LRG_287t2:c.993C>T	NP_861463.1:p.Val331=
NM_000218.3:c.1374C>T MANE Select	NP_000209.2:p.Val458=