Canonical Allele Identifier: CA379131717

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 519367
• ClinVar RCV Id: RCV000619330 ; RCV001043791
• dbSNP Id: rs1554893260
• gnomAD v4: 11-2572967-A-T
• MyVariant Identifiers: chr11:g.2594197A>T (hg19) ; chr11:g.2572967A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572967A>T , CM000673.2:g.2572967A>T	GRCh38
NC_000011.9:g.2594197A>T , CM000673.1:g.2594197A>T	GRCh37
NC_000011.8:g.2550773A>T	NCBI36
NG_008935.1:g.132977A>T , LRG_287:g.132977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.641A>T	ENSP00000434560.2:p.Asp214Val
ENST00000646564.2:c.478-10468A>T	ENSP00000495806.2:n.478-10468A>T
ENST00000155840.12:c.902A>T MANE Select	ENSP00000155840.2:p.Asp301Val
ENST00000335475.6:c.521A>T	ENSP00000334497.5:p.Asp174Val
ENST00000646564.1:c.124-10468A>T	ENSP00000495806.1:n.124-10468A>T
ENST00000155840.9:c.902A>T	ENSP00000155840.2:p.Asp301Val
ENST00000335475.5:c.521A>T	ENSP00000334497.5:p.Asp174Val
NM_000218.2:c.902A>T , LRG_287t1:c.902A>T	NP_000209.2:p.Asp301Val
NM_181798.1:c.521A>T , LRG_287t2:c.521A>T	NP_861463.1:p.Asp174Val
NM_000218.3:c.902A>T MANE Select	NP_000209.2:p.Asp301Val