Canonical Allele Identifier: CA10634493

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304231
• ClinVar RCV Id: RCV000303797 ; RCV000304914 ; RCV000339887 ; RCV000394371 ; RCV000402579
• dbSNP Id: rs886048165
• gnomAD v4: 11-2847951-C-A
• MyVariant Identifiers: chr11:g.2869181C>A (hg19) ; chr11:g.2847951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847951C>A , CM000673.2:g.2847951C>A	GRCh38
NC_000011.9:g.2869181C>A , CM000673.1:g.2869181C>A	GRCh37
NC_000011.8:g.2825757C>A	NCBI36
NG_008935.1:g.407961C>A , LRG_287:g.407961C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1622C>A (KCNQ1)	ENSP00000434560.2:p.Pro541His
ENST00000155840.12:c.1979C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Pro660His
ENST00000335475.6:c.1598C>A (KCNQ1)	ENSP00000334497.5:p.Pro533His
ENST00000526095.2:c.383C>A (KCNQ1)	ENSP00000494939.1:p.Pro128His
ENST00000155840.9:c.1979C>A (KCNQ1)	ENSP00000155840.2:p.Pro660His
ENST00000335475.5:c.1598C>A (KCNQ1)	ENSP00000334497.5:p.Pro533His
ENST00000526095.1:n.486C>A (KCNQ1)
NM_000218.2:c.1979C>A , LRG_287t1:c.1979C>A (KCNQ1)	NP_000209.2:p.Pro660His
NM_181798.1:c.1598C>A , LRG_287t2:c.1598C>A (KCNQ1)	NP_861463.1:p.Pro533His
NR_130721.1:n.778-7509G>T (KCNQ1-AS1)
NM_000218.3:c.1979C>A (KCNQ1) MANE Select	NP_000209.2:p.Pro660His