Canonical Allele Identifier: CA295245

Gene: MFAP5

Linked Data

• ClinVar Variation Id: 162199
• ClinVar RCV Id: RCV001374805 ; RCV002516008
• dbSNP Id: rs727502791
• ExAC: 12:8800737 G / A
• gnomAD v2: 12-8800737-G-A
• gnomAD v4: 12-8648141-G-A
• MyVariant Identifiers: chr12:g.8800737G>A (hg19) ; chr12:g.8648141G>A (hg38)
• PubMed: PMID:25434006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648141G>A , CM000674.2:g.8648141G>A	GRCh38
NC_000012.11:g.8800737G>A , CM000674.1:g.8800737G>A	GRCh37
NC_000012.10:g.8692004G>A	NCBI36
NG_041814.1:g.19748C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359478.7:c.472C>T MANE Select	ENSP00000352455.2:p.Arg158Ter
ENST00000359478.6:c.472C>T	ENSP00000352455.2:p.Arg158Ter
ENST00000396549.6:c.442C>T	ENSP00000379798.2:p.Arg148Ter
ENST00000433590.6:c.397C>T	ENSP00000411997.2:p.Arg133Ter
ENST00000535336.5:c.280C>T	ENSP00000438525.1:p.Arg94Ter
ENST00000535411.5:c.441C>T
ENST00000537009.5:c.*124C>T	ENSP00000439289.1:n.*124C>T
ENST00000538694.5:n.431C>T
ENST00000540087.5:c.442C>T	ENSP00000440496.1:p.Arg148Ter
ENST00000543369.5:c.406C>T	ENSP00000441492.1:p.Arg136Ter
ENST00000543467.5:c.190C>T	ENSP00000444531.1:p.Arg64Ter
ENST00000544211.5:c.*124C>T	ENSP00000443839.1:n.*124C>T
NM_001297709.1:c.442C>T	NP_001284638.1:p.Arg148Ter
NM_001297710.1:c.406C>T	NP_001284639.1:p.Arg136Ter
NM_001297711.1:c.397C>T	NP_001284640.1:p.Arg133Ter
NM_001297712.1:c.280C>T	NP_001284641.1:p.Arg94Ter
NM_003480.3:c.472C>T	NP_003471.1:p.Arg158Ter
NR_123733.1:n.805C>T
NR_123734.1:n.775C>T
NM_003480.4:c.472C>T MANE Select	NP_003471.1:p.Arg158Ter
NM_001297709.2:c.442C>T	NP_001284638.1:p.Arg148Ter
NM_001297710.2:c.406C>T	NP_001284639.1:p.Arg136Ter
NM_001297711.2:c.397C>T	NP_001284640.1:p.Arg133Ter
NM_001297712.2:c.280C>T	NP_001284641.1:p.Arg94Ter
NR_123733.2:n.743C>T
NR_123734.2:n.713C>T