Canonical Allele Identifier: CA128684
Gene: SERPINF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 31851
dbSNP Id: rs193302872
gnomAD v4: 17-1775110-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1775110C>G , CM000679.2:g.1775110C>G GRCh38
NC_000017.10:g.1678404C>G , CM000679.1:g.1678404C>G GRCh37
NC_000017.9:g.1625154C>G NCBI36
NG_028180.1:g.18146C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254722.9:c.696C>G MANE Select ENSP00000254722.4:p.Tyr232Ter
ENST00000254722.8:c.696C>G ENSP00000254722.4:p.Tyr232Ter
ENST00000572048.1:c.135C>G ENSP00000458484.1:p.Tyr45Ter
ENST00000573763.1:c.90C>G ENSP00000461405.1:p.Tyr30Ter
ENST00000576406.5:c.135C>G ENSP00000461214.1:p.Tyr45Ter
NM_002615.5:c.696C>G NP_002606.3:p.Tyr232Ter
NM_001329903.1:c.696C>G NP_001316832.1:p.Tyr232Ter
NM_001329904.1:c.135C>G NP_001316833.1:p.Tyr45Ter
NM_001329905.1:c.135C>G NP_001316834.1:p.Tyr45Ter
NM_002615.6:c.696C>G NP_002606.3:p.Tyr232Ter
NM_002615.7:c.696C>G MANE Select NP_002606.3:p.Tyr232Ter
NM_001329903.2:c.696C>G NP_001316832.1:p.Tyr232Ter
NM_001329904.2:c.135C>G NP_001316833.1:p.Tyr45Ter
NM_001329905.2:c.135C>G NP_001316834.1:p.Tyr45Ter