Canonical Allele Identifier: CA216292393

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1027279374
• gnomAD v4: 11-2445025-C-T
• MyVariant Identifiers: chr11:g.2466255C>T (hg19) ; chr11:g.2445025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445025C>T , CM000673.2:g.2445025C>T	GRCh38
NC_000011.9:g.2466255C>T , CM000673.1:g.2466255C>T	GRCh37
NC_000011.8:g.2422831C>T	NCBI36
NG_008935.1:g.5035C>T , LRG_287:g.5035C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.23+317C>T	ENSP00000434560.2:n.23+317C>T
ENST00000646564.2:c.-74C>T	ENSP00000495806.2:n.-74C>T
ENST00000155840.12:c.-74C>T MANE Select	ENSP00000155840.2:n.-74C>T
ENST00000155840.9:c.-74C>T	ENSP00000155840.2:n.-74C>T
ENST00000496887.6:c.23+317C>T	ENSP00000434560.1:n.23+317C>T
NM_000218.2:c.-74C>T , LRG_287t1:c.-74C>T	NP_000209.2:n.-74C>T
NM_000218.3:c.-74C>T MANE Select	NP_000209.2:n.-74C>T