Canonical Allele Identifier: CA8274963
Gene: SERPINF1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.1777308C>G
GRCh37 chr17:g.1680602C>G
gnomAD v2:
17:1680602 C / G
gnomAD v3:
17:1777308 C / G
gnomAD v4:
chr17-1777308-C-G
Joint Max Group AF 0.00043016 (MID)
Genomes Max Group AF 0.0000791 (NFE)
Exomes Max Group AF 0.00045291 (MID)
ClinVar RCV:
RCV000318099
RCV002061218
ClinVar Variation:
322015
dbSNP:
148717983
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1777308C>G , CM000679.2:g.1777308C>G GRCh38
NC_000017.10:g.1680602C>G , CM000679.1:g.1680602C>G GRCh37
NC_000017.9:g.1627352C>G NCBI36
NG_028180.1:g.20344C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254722.9:c.1119C>G MANE Select ENSP00000254722.4:p.Pro373=
ENST00000254722.8:c.1119C>G ENSP00000254722.4:p.Pro373=
ENST00000572517.1:n.415C>G
NM_002615.5:c.1119C>G NP_002606.3:p.Pro373=
NM_001329903.1:c.1119C>G NP_001316832.1:p.Pro373=
NM_001329904.1:c.558C>G NP_001316833.1:p.Pro186=
NM_001329905.1:c.558C>G NP_001316834.1:p.Pro186=
NM_002615.6:c.1119C>G NP_002606.3:p.Pro373=
NM_002615.7:c.1119C>G MANE Select NP_002606.3:p.Pro373=
NM_001329903.2:c.1119C>G NP_001316832.1:p.Pro373=
NM_001329904.2:c.558C>G NP_001316833.1:p.Pro186=
NM_001329905.2:c.558C>G NP_001316834.1:p.Pro186=
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