Canonical Allele Identifier: CA624565126
Gene: SERPINF1 HGNC NCBI

Linked Data

dbSNP Id: rs1255211557
gnomAD v2: 17-1675452-C-G
gnomAD v3: 17-1772158-C-G
gnomAD v4: 17-1772158-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1772158C>G , CM000679.2:g.1772158C>G GRCh38
NC_000017.10:g.1675452C>G , CM000679.1:g.1675452C>G GRCh37
NC_000017.9:g.1622202C>G NCBI36
NG_028180.1:g.15194C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254722.9:c.643+83C>G MANE Select ENSP00000254722.4:n.643+83C>G
ENST00000254722.8:c.643+83C>G ENSP00000254722.4:n.643+83C>G
ENST00000572048.1:c.82+83C>G ENSP00000458484.1:n.82+83C>G
ENST00000573763.1:c.42+83C>G ENSP00000461405.1:n.42+83C>G
ENST00000576406.5:c.82+83C>G ENSP00000461214.1:n.82+83C>G
NM_002615.5:c.643+83C>G NP_002606.3:n.643+83C>G
NM_001329903.1:c.643+83C>G NP_001316832.1:n.643+83C>G
NM_001329904.1:c.82+83C>G NP_001316833.1:n.82+83C>G
NM_001329905.1:c.82+83C>G NP_001316834.1:n.82+83C>G
NM_002615.6:c.643+83C>G NP_002606.3:n.643+83C>G
NM_002615.7:c.643+83C>G MANE Select NP_002606.3:n.643+83C>G
NM_001329903.2:c.643+83C>G NP_001316832.1:n.643+83C>G
NM_001329904.2:c.82+83C>G NP_001316833.1:n.82+83C>G
NM_001329905.2:c.82+83C>G NP_001316834.1:n.82+83C>G