Canonical Allele Identifier: CA548471910

Gene: KNG1

Linked Data

• dbSNP Id: rs1309647544
• gnomAD v2: 3-186454224-T-G
• gnomAD v3: 3-186736435-T-G
• gnomAD v4: 3-186736435-T-G
• MyVariant Identifiers: chr3:g.186454224T>G (hg19) ; chr3:g.186736435T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186736435T>G , CM000665.2:g.186736435T>G	GRCh38
NC_000003.11:g.186454224T>G , CM000665.1:g.186454224T>G	GRCh37
NC_000003.10:g.187936918T>G	NCBI36
NG_016009.1:g.24127T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287611.8:c.931-2664T>G	ENSP00000287611.2:n.931-2664T>G
ENST00000644859.2:c.931-2664T>G MANE Select	ENSP00000493985.1:n.931-2664T>G
ENST00000265023.8:c.931-2664T>G	ENSP00000265023.4:n.931-2664T>G
ENST00000287611.6:c.931-2664T>G	ENSP00000287611.2:n.931-2664T>G
ENST00000447445.1:c.823-2664T>G	ENSP00000396025.1:n.823-2664T>G
NM_000893.3:c.931-2664T>G	NP_000884.1:n.931-2664T>G
NM_001102416.2:c.931-2664T>G	NP_001095886.1:n.931-2664T>G
NM_001166451.1:c.823-2664T>G	NP_001159923.1:n.823-2664T>G
NM_000893.4:c.931-2664T>G	NP_000884.1:n.931-2664T>G
NM_001102416.3:c.931-2664T>G MANE Select	NP_001095886.1:n.931-2664T>G
NM_001166451.2:c.823-2664T>G	NP_001159923.1:n.823-2664T>G