Canonical Allele Identifier: CA14392904
Gene: SERPINF1 HGNC NCBI
COSMIC:
COSN19690546 (not active)
MyVariant.info:
GRCh38 chr17:g.1770111G>A
GRCh37 chr17:g.1673405G>A
gnomAD v2:
17:1673405 G / A
gnomAD v3:
17:1770111 G / A
gnomAD v4:
chr17-1770111-G-A
Joint Max Group AF 0.37268422 (AFR)
Genomes Max Group AF 0.36702075 (AFR)
Exomes Max Group AF 0.37647744 (AFR)
ClinVar RCV:
RCV001673427
ClinVar Variation:
1256818
dbSNP:
12603825
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1770111G>A , CM000679.2:g.1770111G>A GRCh38
NC_000017.10:g.1673405G>A , CM000679.1:g.1673405G>A GRCh37
NC_000017.9:g.1620155G>A NCBI36
NG_028180.1:g.13147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254722.9:c.283+61G>A MANE Select ENSP00000254722.4:n.283+61G>A
ENST00000254722.8:c.283+61G>A ENSP00000254722.4:n.283+61G>A
ENST00000570731.5:c.283+61G>A ENSP00000459869.1:n.283+61G>A
ENST00000571360.5:c.244+61G>A ENSP00000461660.1:n.244+61G>A
ENST00000571870.5:n.524+61G>A
ENST00000573770.5:c.283+61G>A ENSP00000459107.1:n.283+61G>A
ENST00000576406.5:c.-279+61G>A ENSP00000461214.1:n.-279+61G>A
ENST00000577053.1:c.283+61G>A ENSP00000460842.1:n.283+61G>A
NM_002615.5:c.283+61G>A NP_002606.3:n.283+61G>A
NM_001329903.1:c.283+61G>A NP_001316832.1:n.283+61G>A
NM_001329904.1:c.-279+61G>A NP_001316833.1:n.-279+61G>A
NM_002615.6:c.283+61G>A NP_002606.3:n.283+61G>A
NM_002615.7:c.283+61G>A MANE Select NP_002606.3:n.283+61G>A
NM_001329903.2:c.283+61G>A NP_001316832.1:n.283+61G>A
NM_001329904.2:c.-279+61G>A NP_001316833.1:n.-279+61G>A
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