Canonical Allele Identifier: CA10639040
Gene: SERPINF1 HGNC NCBI
ClinVar RCV:
RCV000365793
RCV001683290
RCV002278487
ClinVar Variation:
321997
dbSNP:
9913583
gnomAD v2:
17:1665330 C / A
gnomAD v3:
17:1762036 C / A
gnomAD v4:
chr17-1762036-C-A
Joint Max Group AF 0.1323517 (AFR)
Genomes Max Group AF 0.13237704 (AFR)
Exomes Max Group AF 0.0525505 (EAS)
MyVariant.info:
GRCh38 chr17:g.1762036C>A
GRCh37 chr17:g.1665330C>A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1762036C>A , CM000679.2:g.1762036C>A GRCh38
NC_000017.10:g.1665330C>A , CM000679.1:g.1665330C>A GRCh37
NC_000017.9:g.1612080C>A NCBI36
NG_028180.1:g.5072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254722.8:c.-86C>A ENSP00000254722.4:n.-86C>A
ENST00000571360.5:c.-86C>A ENSP00000461660.1:n.-86C>A
NM_002615.5:c.-86C>A NP_002606.3:n.-86C>A
NM_001329904.1:c.-555C>A NP_001316833.1:n.-555C>A
NM_002615.6:c.-86C>A NP_002606.3:n.-86C>A
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