Canonical Allele Identifier: CA286846335

Gene: SERPINF1

Linked Data

• ClinVar Variation Id: 1449308
• ClinVar RCV Id: RCV001997482 ; RCV002276950
• dbSNP Id: rs967535162
• MyVariant Identifiers: chr17:g.1675346T>G (hg19) ; chr17:g.1772052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1772052T>G , CM000679.2:g.1772052T>G	GRCh38
NC_000017.10:g.1675346T>G , CM000679.1:g.1675346T>G	GRCh37
NC_000017.9:g.1622096T>G	NCBI36
NG_028180.1:g.15088T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254722.9:c.620T>G MANE Select	ENSP00000254722.4:p.Leu207Arg
ENST00000254722.8:c.620T>G	ENSP00000254722.4:p.Leu207Arg
ENST00000572048.1:c.59T>G	ENSP00000458484.1:p.Leu20Arg
ENST00000573763.1:c.19T>G	ENSP00000461405.1:p.Phe7Val
ENST00000576406.5:c.59T>G	ENSP00000461214.1:p.Leu20Arg
NM_002615.5:c.620T>G	NP_002606.3:p.Leu207Arg
NM_001329903.1:c.620T>G	NP_001316832.1:p.Leu207Arg
NM_001329904.1:c.59T>G	NP_001316833.1:p.Leu20Arg
NM_001329905.1:c.59T>G	NP_001316834.1:p.Leu20Arg
NM_002615.6:c.620T>G	NP_002606.3:p.Leu207Arg
NM_002615.7:c.620T>G MANE Select	NP_002606.3:p.Leu207Arg
NM_001329903.2:c.620T>G	NP_001316832.1:p.Leu207Arg
NM_001329904.2:c.59T>G	NP_001316833.1:p.Leu20Arg
NM_001329905.2:c.59T>G	NP_001316834.1:p.Leu20Arg