Canonical Allele Identifier: CA212750

Gene: KNG1

Linked Data

• ClinVar Variation Id: 575
• ClinVar RCV Id: RCV000000605
• dbSNP Id: rs797044430
• MyVariant Identifiers: chr3:g.186459401dupC (hg19) ; chr3:g.186741612dupC (hg38)
• PubMed: PMID:1968772 ; PMID:17522339

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186741612dup , CM000665.2:g.186741612dup	GRCh38
NC_000003.11:g.186459401dup , CM000665.1:g.186459401dup	GRCh37
NC_000003.10:g.187942095dup	NCBI36
NG_016009.1:g.29304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287611.8:c.1203+13dup	ENSP00000287611.2:n.1203+13dup
ENST00000644859.2:c.1216dup MANE Select	ENSP00000493985.1:p.His406ProfsTer10
ENST00000265023.8:c.1216dup	ENSP00000265023.4:p.His406ProfsTer10
ENST00000287611.6:c.1203+13dup	ENSP00000287611.2:n.1203+13dup
ENST00000447445.1:c.1095+13dup	ENSP00000396025.1:n.1095+13dup
NM_000893.3:c.1203+13dup	NP_000884.1:n.1203+13dup
NM_001102416.2:c.1216dup	NP_001095886.1:p.His406ProfsTer10
NM_001166451.1:c.1095+13dup	NP_001159923.1:n.1095+13dup
NM_000893.4:c.1203+13dup	NP_000884.1:n.1203+13dup
NM_001102416.3:c.1216dup MANE Select	NP_001095886.1:p.His406ProfsTer10
NM_001166451.2:c.1095+13dup	NP_001159923.1:n.1095+13dup