Canonical Allele Identifier: CA597109012

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1221417141
• gnomAD v2: 11-2591827-C-T
• MyVariant Identifiers: chr11:g.2591827C>T (hg19) ; chr11:g.2570597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570597C>T , CM000673.2:g.2570597C>T	GRCh38
NC_000011.9:g.2591827C>T , CM000673.1:g.2591827C>T	GRCh37
NC_000011.8:g.2548403C>T	NCBI36
NG_008935.1:g.130607C>T , LRG_287:g.130607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217-31C>T	ENSP00000434560.2:n.217-31C>T
ENST00000646564.2:c.478-12838C>T	ENSP00000495806.2:n.478-12838C>T
ENST00000155840.12:c.478-31C>T MANE Select	ENSP00000155840.2:n.478-31C>T
ENST00000335475.6:c.97-31C>T	ENSP00000334497.5:n.97-31C>T
ENST00000646564.1:c.124-12838C>T	ENSP00000495806.1:n.124-12838C>T
ENST00000155840.9:c.478-31C>T	ENSP00000155840.2:n.478-31C>T
ENST00000335475.5:c.97-31C>T	ENSP00000334497.5:n.97-31C>T
ENST00000496887.6:c.217-31C>T	ENSP00000434560.1:n.217-31C>T
NM_000218.2:c.478-31C>T , LRG_287t1:c.478-31C>T	NP_000209.2:n.478-31C>T
NM_181798.1:c.97-31C>T , LRG_287t2:c.97-31C>T	NP_861463.1:n.97-31C>T
NM_000218.3:c.478-31C>T MANE Select	NP_000209.2:n.478-31C>T