Canonical Allele Identifier: CA041293

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 918321
• ClinVar RCV Id: RCV001438948 ; RCV001619893 ; RCV001842628 ; RCV003293920
• dbSNP Id: rs373183513
• ExAC: 11:2594192 C / T
• gnomAD v2: 11-2594192-C-T
• gnomAD v3: 11-2572962-C-T
• gnomAD v4: 11-2572962-C-T
• MyVariant Identifiers: chr11:g.2594192C>T (hg19) ; chr11:g.2572962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572962C>T , CM000673.2:g.2572962C>T	GRCh38
NC_000011.9:g.2594192C>T , CM000673.1:g.2594192C>T	GRCh37
NC_000011.8:g.2550768C>T	NCBI36
NG_008935.1:g.132972C>T , LRG_287:g.132972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.636C>T	ENSP00000434560.2:p.Tyr212=
ENST00000646564.2:c.478-10473C>T	ENSP00000495806.2:n.478-10473C>T
ENST00000155840.12:c.897C>T MANE Select	ENSP00000155840.2:p.Tyr299=
ENST00000335475.6:c.516C>T	ENSP00000334497.5:p.Tyr172=
ENST00000646564.1:c.124-10473C>T	ENSP00000495806.1:n.124-10473C>T
ENST00000155840.9:c.897C>T	ENSP00000155840.2:p.Tyr299=
ENST00000335475.5:c.516C>T	ENSP00000334497.5:p.Tyr172=
NM_000218.2:c.897C>T , LRG_287t1:c.897C>T	NP_000209.2:p.Tyr299=
NM_181798.1:c.516C>T , LRG_287t2:c.516C>T	NP_861463.1:p.Tyr172=
NM_000218.3:c.897C>T MANE Select	NP_000209.2:p.Tyr299=