Canonical Allele Identifier: CA472038164

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 456870
• ClinVar RCV Id: RCV000560430 ; RCV002448625 ; RCV003591743
• dbSNP Id: rs1554893236
• gnomAD v4: 11-2572905-G-T
• MyVariant Identifiers: chr11:g.2594135G>T (hg19) ; chr11:g.2572905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572905G>T , CM000673.2:g.2572905G>T	GRCh38
NC_000011.9:g.2594135G>T , CM000673.1:g.2594135G>T	GRCh37
NC_000011.8:g.2550711G>T	NCBI36
NG_008935.1:g.132915G>T , LRG_287:g.132915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.579G>T	ENSP00000434560.2:p.Val193=
ENST00000646564.2:c.478-10530G>T	ENSP00000495806.2:n.478-10530G>T
ENST00000155840.12:c.840G>T MANE Select	ENSP00000155840.2:p.Val280=
ENST00000335475.6:c.459G>T	ENSP00000334497.5:p.Val153=
ENST00000646564.1:c.124-10530G>T	ENSP00000495806.1:n.124-10530G>T
ENST00000155840.9:c.840G>T	ENSP00000155840.2:p.Val280=
ENST00000335475.5:c.459G>T	ENSP00000334497.5:p.Val153=
ENST00000496887.6:c.579G>T	ENSP00000434560.1:p.Val193=
NM_000218.2:c.840G>T , LRG_287t1:c.840G>T	NP_000209.2:p.Val280=
NM_181798.1:c.459G>T , LRG_287t2:c.459G>T	NP_861463.1:p.Val153=
NM_000218.3:c.840G>T MANE Select	NP_000209.2:p.Val280=