Canonical Allele Identifier: CA8274569
Gene: SERPINF1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.1769969G>C
GRCh37 chr17:g.1673263G>C
Revel Score:
ENST00000254722 (MANE Select) 0.097
gnomAD v2:
17:1673263 G / C
gnomAD v3:
17:1769969 G / C
gnomAD v4:
chr17-1769969-G-C
Joint Max Group AF 0.00356946 (NFE)
Genomes Max Group AF 0.00311985 (NFE)
Exomes Max Group AF 0.00357749 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1769969G>C , CM000679.2:g.1769969G>C GRCh38
NC_000017.10:g.1673263G>C , CM000679.1:g.1673263G>C GRCh37
NC_000017.9:g.1620013G>C NCBI36
NG_028180.1:g.13005G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254722.9:c.202G>C MANE Select ENSP00000254722.4:p.Val68Leu
ENST00000254722.8:c.202G>C ENSP00000254722.4:p.Val68Leu
ENST00000570731.5:c.202G>C ENSP00000459869.1:p.Val68Leu
ENST00000571149.5:c.202G>C ENSP00000460905.1:p.Val68Leu
ENST00000571360.5:c.163G>C ENSP00000461660.1:p.Val55Leu
ENST00000571870.5:n.443G>C
ENST00000573770.5:c.202G>C ENSP00000459107.1:p.Val68Leu
ENST00000576406.5:c.-360G>C ENSP00000461214.1:n.-360G>C
ENST00000577053.1:c.202G>C ENSP00000460842.1:p.Val68Leu
NM_002615.5:c.202G>C NP_002606.3:p.Val68Leu
NM_001329903.1:c.202G>C NP_001316832.1:p.Val68Leu
NM_001329904.1:c.-360G>C NP_001316833.1:n.-360G>C
NM_002615.6:c.202G>C NP_002606.3:p.Val68Leu
NM_002615.7:c.202G>C MANE Select NP_002606.3:p.Val68Leu
NM_001329903.2:c.202G>C NP_001316832.1:p.Val68Leu
NM_001329904.2:c.-360G>C NP_001316833.1:n.-360G>C
Search 100 bp 5'
Search 100 bp 3'