Canonical Allele Identifier: CA8274764

Gene: SERPINF1

Linked Data

• ClinVar Variation Id: 322007
• ClinVar RCV Id: RCV002056562
• dbSNP Id: rs12103559
• ExAC: 17:1675378 G / A
• gnomAD v2: 17-1675378-G-A
• gnomAD v3: 17-1772084-G-A
• gnomAD v4: 17-1772084-G-A
• MyVariant Identifiers: chr17:g.1675378G>A (hg19) ; chr17:g.1772084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1772084G>A , CM000679.2:g.1772084G>A	GRCh38
NC_000017.10:g.1675378G>A , CM000679.1:g.1675378G>A	GRCh37
NC_000017.9:g.1622128G>A	NCBI36
NG_028180.1:g.15120G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000254722.9:c.643+9G>A MANE Select	ENSP00000254722.4:n.643+9G>A
ENST00000254722.8:c.643+9G>A	ENSP00000254722.4:n.643+9G>A
ENST00000572048.1:c.82+9G>A	ENSP00000458484.1:n.82+9G>A
ENST00000573763.1:c.42+9G>A	ENSP00000461405.1:n.42+9G>A
ENST00000576406.5:c.82+9G>A	ENSP00000461214.1:n.82+9G>A
NM_002615.5:c.643+9G>A	NP_002606.3:n.643+9G>A
NM_001329903.1:c.643+9G>A	NP_001316832.1:n.643+9G>A
NM_001329904.1:c.82+9G>A	NP_001316833.1:n.82+9G>A
NM_001329905.1:c.82+9G>A	NP_001316834.1:n.82+9G>A
NM_002615.6:c.643+9G>A	NP_002606.3:n.643+9G>A
NM_002615.7:c.643+9G>A MANE Select	NP_002606.3:n.643+9G>A
NM_001329903.2:c.643+9G>A	NP_001316832.1:n.643+9G>A
NM_001329904.2:c.82+9G>A	NP_001316833.1:n.82+9G>A
NM_001329905.2:c.82+9G>A	NP_001316834.1:n.82+9G>A