Canonical Allele Identifier: CA11489093

Gene: KNG1

Linked Data

• dbSNP Id: rs5030062
• gnomAD v2: 3-186454180-A-C
• gnomAD v3: 3-186736391-A-C
• gnomAD v4: 3-186736391-A-C
• MyVariant Identifiers: chr3:g.186454180A>C (hg19) ; chr3:g.186736391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186736391A>C , CM000665.2:g.186736391A>C	GRCh38
NC_000003.11:g.186454180A>C , CM000665.1:g.186454180A>C	GRCh37
NC_000003.10:g.187936874A>C	NCBI36
NG_016009.1:g.24083A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287611.8:c.931-2708A>C	ENSP00000287611.2:n.931-2708A>C
ENST00000644859.2:c.931-2708A>C MANE Select	ENSP00000493985.1:n.931-2708A>C
ENST00000265023.8:c.931-2708A>C	ENSP00000265023.4:n.931-2708A>C
ENST00000287611.6:c.931-2708A>C	ENSP00000287611.2:n.931-2708A>C
ENST00000447445.1:c.823-2708A>C	ENSP00000396025.1:n.823-2708A>C
NM_000893.3:c.931-2708A>C	NP_000884.1:n.931-2708A>C
NM_001102416.2:c.931-2708A>C	NP_001095886.1:n.931-2708A>C
NM_001166451.1:c.823-2708A>C	NP_001159923.1:n.823-2708A>C
NM_000893.4:c.931-2708A>C	NP_000884.1:n.931-2708A>C
NM_001102416.3:c.931-2708A>C MANE Select	NP_001095886.1:n.931-2708A>C
NM_001166451.2:c.823-2708A>C	NP_001159923.1:n.823-2708A>C