Canonical Allele Identifier: CA005620

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67026
• ClinVar RCV Id: RCV000057578 ; RCV000155365 ; RCV000171758 ; RCV000252693 ; RCV001102908 ; RCV001102907 ; RCV001093977 ; RCV001102906 ; RCV001841662
• dbSNP Id: rs12720449
• ExAC: 11:2610034 C / G
• gnomAD v2: 11-2610034-C-G
• gnomAD v3: 11-2588804-C-G
• gnomAD v4: 11-2588804-C-G
• MyVariant Identifiers: chr11:g.2610034C>G (hg19) ; chr11:g.2588804C>G (hg38)
• PubMed: PMID:10973849 ; PMID:11997281 ; PMID:14661677 ; PMID:14731347 ; PMID:15051636 ; PMID:15242738 ; PMID:16155735 ; PMID:16487223 ; PMID:17016049 ; PMID:17210839 ; PMID:17597962 ; PMID:19841300 ; PMID:22581653 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588804C>G , CM000673.2:g.2588804C>G	GRCh38
NC_000011.9:g.2610034C>G , CM000673.1:g.2610034C>G	GRCh37
NC_000011.8:g.2566610C>G	NCBI36
NG_008935.1:g.148814C>G , LRG_287:g.148814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.986C>G	ENSP00000434560.2:p.Pro329Arg
ENST00000646564.2:c.803C>G	ENSP00000495806.2:p.Pro268Arg
ENST00000155840.12:c.1343C>G MANE Select	ENSP00000155840.2:p.Pro448Arg
ENST00000335475.6:c.962C>G	ENSP00000334497.5:p.Pro321Arg
ENST00000646564.1:c.449C>G	ENSP00000495806.1:p.Pro150Arg
ENST00000155840.9:c.1343C>G	ENSP00000155840.2:p.Pro448Arg
ENST00000335475.5:c.962C>G	ENSP00000334497.5:p.Pro321Arg
NM_000218.2:c.1343C>G , LRG_287t1:c.1343C>G	NP_000209.2:p.Pro448Arg
NM_181798.1:c.962C>G , LRG_287t2:c.962C>G	NP_861463.1:p.Pro321Arg
NM_000218.3:c.1343C>G MANE Select	NP_000209.2:p.Pro448Arg