Canonical Allele Identifier: CA379117547

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1677545
• ClinVar RCV Id: RCV002224287
• dbSNP Id: rs2133560218
• MyVariant Identifiers: chr11:g.2466663A>G (hg19) ; chr11:g.2445433A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445433A>G , CM000673.2:g.2445433A>G	GRCh38
NC_000011.9:g.2466663A>G , CM000673.1:g.2466663A>G	GRCh37
NC_000011.8:g.2423239A>G	NCBI36
NG_008935.1:g.5443A>G , LRG_287:g.5443A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.74A>G	ENSP00000434560.2:p.Asn25Ser
ENST00000646564.2:c.335A>G	ENSP00000495806.2:p.Asn112Ser
ENST00000155840.12:c.335A>G MANE Select	ENSP00000155840.2:p.Asn112Ser
ENST00000155840.9:c.335A>G	ENSP00000155840.2:p.Asn112Ser
ENST00000345015.4:n.112A>G
ENST00000496887.6:c.74A>G	ENSP00000434560.1:p.Asn25Ser
NM_000218.2:c.335A>G , LRG_287t1:c.335A>G	NP_000209.2:p.Asn112Ser
NM_000218.3:c.335A>G MANE Select	NP_000209.2:p.Asn112Ser