Canonical Allele Identifier: CA006375

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200857
• ClinVar RCV Id: RCV000182226 ; RCV003314573 ; RCV003319330
• dbSNP Id: rs199472814
• gnomAD v4: 11-2778015-G-T
• MyVariant Identifiers: chr11:g.2799245G>T (hg19) ; chr11:g.2778015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778015G>T , CM000673.2:g.2778015G>T	GRCh38
NC_000011.9:g.2799245G>T , CM000673.1:g.2799245G>T	GRCh37
NC_000011.8:g.2755821G>T	NCBI36
NG_008935.1:g.338025G>T , LRG_287:g.338025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1415G>T	ENSP00000434560.2:p.Arg472Leu
ENST00000646564.2:c.1232G>T	ENSP00000495806.2:p.Arg411Leu
ENST00000155840.12:c.1772G>T MANE Select	ENSP00000155840.2:p.Arg591Leu
ENST00000335475.6:c.1391G>T	ENSP00000334497.5:p.Arg464Leu
ENST00000526095.2:c.176G>T	ENSP00000494939.1:p.Arg59Leu
ENST00000646564.1:c.878G>T	ENSP00000495806.1:p.Arg293Leu
ENST00000155840.9:c.1772G>T	ENSP00000155840.2:p.Arg591Leu
ENST00000335475.5:c.1391G>T	ENSP00000334497.5:p.Arg464Leu
ENST00000526095.1:n.279G>T
NM_000218.2:c.1772G>T , LRG_287t1:c.1772G>T	NP_000209.2:p.Arg591Leu
NM_181798.1:c.1391G>T , LRG_287t2:c.1391G>T	NP_861463.1:p.Arg464Leu
NM_000218.3:c.1772G>T MANE Select	NP_000209.2:p.Arg591Leu