Canonical Allele Identifier: CA379122086

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 684787
• ClinVar RCV Id: RCV000845331 ; RCV003318389
• dbSNP Id: rs1589931156
• MyVariant Identifiers: chr11:g.2549238T>C (hg19) ; chr11:g.2528008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528008T>C , CM000673.2:g.2528008T>C	GRCh38
NC_000011.9:g.2549238T>C , CM000673.1:g.2549238T>C	GRCh37
NC_000011.8:g.2505814T>C	NCBI36
NG_008935.1:g.88018T>C , LRG_287:g.88018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.206T>C	ENSP00000434560.2:p.Leu69Pro
ENST00000646564.2:c.467T>C	ENSP00000495806.2:p.Leu156Pro
ENST00000155840.12:c.467T>C MANE Select	ENSP00000155840.2:p.Leu156Pro
ENST00000335475.6:c.86T>C	ENSP00000334497.5:p.Leu29Pro
ENST00000646564.1:c.113T>C	ENSP00000495806.1:p.Leu38Pro
ENST00000155840.9:c.467T>C	ENSP00000155840.2:p.Leu156Pro
ENST00000335475.5:c.86T>C	ENSP00000334497.5:p.Leu29Pro
ENST00000496887.6:c.206T>C	ENSP00000434560.1:p.Leu69Pro
NM_000218.2:c.467T>C , LRG_287t1:c.467T>C	NP_000209.2:p.Leu156Pro
NM_181798.1:c.86T>C , LRG_287t2:c.86T>C	NP_861463.1:p.Leu29Pro
NM_000218.3:c.467T>C MANE Select	NP_000209.2:p.Leu156Pro