Canonical Allele Identifier: CA597098484

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1437851142
• gnomAD v2: 11-2466259-C-T
• gnomAD v3: 11-2445029-C-T
• gnomAD v4: 11-2445029-C-T
• MyVariant Identifiers: chr11:g.2466259C>T (hg19) ; chr11:g.2445029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445029C>T , CM000673.2:g.2445029C>T	GRCh38
NC_000011.9:g.2466259C>T , CM000673.1:g.2466259C>T	GRCh37
NC_000011.8:g.2422835C>T	NCBI36
NG_008935.1:g.5039C>T , LRG_287:g.5039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.23+321C>T	ENSP00000434560.2:n.23+321C>T
ENST00000646564.2:c.-70C>T	ENSP00000495806.2:n.-70C>T
ENST00000155840.12:c.-70C>T MANE Select	ENSP00000155840.2:n.-70C>T
ENST00000155840.9:c.-70C>T	ENSP00000155840.2:n.-70C>T
ENST00000496887.6:c.23+321C>T	ENSP00000434560.1:n.23+321C>T
NM_000218.2:c.-70C>T , LRG_287t1:c.-70C>T	NP_000209.2:n.-70C>T
NM_000218.3:c.-70C>T MANE Select	NP_000209.2:n.-70C>T