Canonical Allele Identifier: CA379129880

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 449041
• ClinVar RCV Id: RCV000521673 ; RCV003647781
• dbSNP Id: rs1554892900
• gnomAD v4: 11-2570676-T-C
• MyVariant Identifiers: chr11:g.2591906T>C (hg19) ; chr11:g.2570676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570676T>C , CM000673.2:g.2570676T>C	GRCh38
NC_000011.9:g.2591906T>C , CM000673.1:g.2591906T>C	GRCh37
NC_000011.8:g.2548482T>C	NCBI36
NG_008935.1:g.130686T>C , LRG_287:g.130686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.265T>C	ENSP00000434560.2:p.Trp89Arg
ENST00000646564.2:c.478-12759T>C	ENSP00000495806.2:n.478-12759T>C
ENST00000155840.12:c.526T>C MANE Select	ENSP00000155840.2:p.Trp176Arg
ENST00000335475.6:c.145T>C	ENSP00000334497.5:p.Trp49Arg
ENST00000646564.1:c.124-12759T>C	ENSP00000495806.1:n.124-12759T>C
ENST00000155840.9:c.526T>C	ENSP00000155840.2:p.Trp176Arg
ENST00000335475.5:c.145T>C	ENSP00000334497.5:p.Trp49Arg
ENST00000496887.6:c.265T>C	ENSP00000434560.1:p.Trp89Arg
NM_000218.2:c.526T>C , LRG_287t1:c.526T>C	NP_000209.2:p.Trp176Arg
NM_181798.1:c.145T>C , LRG_287t2:c.145T>C	NP_861463.1:p.Trp49Arg
NM_000218.3:c.526T>C MANE Select	NP_000209.2:p.Trp176Arg