Canonical Allele Identifier: CA603402147

Gene: MFAP5

Linked Data

• dbSNP Id: rs1371261487
• gnomAD v2: 12-8800641-C-T
• gnomAD v3: 12-8648045-C-T
• gnomAD v4: 12-8648045-C-T
• MyVariant Identifiers: chr12:g.8800641C>T (hg19) ; chr12:g.8648045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648045C>T , CM000674.2:g.8648045C>T	GRCh38
NC_000012.11:g.8800641C>T , CM000674.1:g.8800641C>T	GRCh37
NC_000012.10:g.8691908C>T	NCBI36
NG_041814.1:g.19844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*46G>A MANE Select	ENSP00000352455.2:n.*46G>A
ENST00000359478.6:c.*46G>A	ENSP00000352455.2:n.*46G>A
ENST00000396549.6:c.*46G>A	ENSP00000379798.2:n.*46G>A
ENST00000433590.6:c.*46G>A	ENSP00000411997.2:n.*46G>A
ENST00000535336.5:c.*46G>A	ENSP00000438525.1:n.*46G>A
ENST00000535411.5:c.520+17G>A
ENST00000543369.5:c.*46G>A	ENSP00000441492.1:n.*46G>A
ENST00000543467.5:c.269+17G>A	ENSP00000444531.1:n.269+17G>A
ENST00000544211.5:c.*220G>A	ENSP00000443839.1:n.*220G>A
NM_001297709.1:c.*46G>A	NP_001284638.1:n.*46G>A
NM_001297710.1:c.*46G>A	NP_001284639.1:n.*46G>A
NM_001297711.1:c.*46G>A	NP_001284640.1:n.*46G>A
NM_001297712.1:c.*46G>A	NP_001284641.1:n.*46G>A
NM_003480.3:c.*46G>A	NP_003471.1:n.*46G>A
NR_123733.1:n.901G>A
NR_123734.1:n.871G>A
NM_003480.4:c.*46G>A MANE Select	NP_003471.1:n.*46G>A
NM_001297709.2:c.*46G>A	NP_001284638.1:n.*46G>A
NM_001297710.2:c.*46G>A	NP_001284639.1:n.*46G>A
NM_001297711.2:c.*46G>A	NP_001284640.1:n.*46G>A
NM_001297712.2:c.*46G>A	NP_001284641.1:n.*46G>A
NR_123733.2:n.839G>A
NR_123734.2:n.809G>A