Canonical Allele Identifier: CA216345022

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 840838
• ClinVar RCV Id: RCV001042935
• dbSNP Id: rs916154167
• gnomAD v4: 11-2847781-C-A
• MyVariant Identifiers: chr11:g.2869011C>A (hg19) ; chr11:g.2847781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847781C>A , CM000673.2:g.2847781C>A	GRCh38
NC_000011.9:g.2869011C>A , CM000673.1:g.2869011C>A	GRCh37
NC_000011.8:g.2825587C>A	NCBI36
NG_008935.1:g.407791C>A , LRG_287:g.407791C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1452C>A (KCNQ1)	ENSP00000434560.2:p.Asp484Glu
ENST00000155840.12:c.1809C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp603Glu
ENST00000335475.6:c.1428C>A (KCNQ1)	ENSP00000334497.5:p.Asp476Glu
ENST00000526095.2:c.213C>A (KCNQ1)	ENSP00000494939.1:p.Asp71Glu
ENST00000155840.9:c.1809C>A (KCNQ1)	ENSP00000155840.2:p.Asp603Glu
ENST00000335475.5:c.1428C>A (KCNQ1)	ENSP00000334497.5:p.Asp476Glu
ENST00000526095.1:n.316C>A (KCNQ1)
NM_000218.2:c.1809C>A , LRG_287t1:c.1809C>A (KCNQ1)	NP_000209.2:p.Asp603Glu
NM_181798.1:c.1428C>A , LRG_287t2:c.1428C>A (KCNQ1)	NP_861463.1:p.Asp476Glu
NR_130721.1:n.778-7339G>T (KCNQ1-AS1)
NM_000218.3:c.1809C>A (KCNQ1) MANE Select	NP_000209.2:p.Asp603Glu