Canonical Allele Identifier: CA2617498701

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648045-C-A

Genomic Alleles

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

Transcript Alleles

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