Canonical Allele Identifier: CA658797839

Gene: MFAP5

Linked Data

• ClinVar Variation Id: 511523
• ClinVar RCV Id: RCV000606495
• dbSNP Id: rs1555137911
• gnomAD v4: 12-8650490-G-T
• MyVariant Identifiers: chr12:g.8803086G>T (hg19) ; chr12:g.8650490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8650490G>T , CM000674.2:g.8650490G>T	GRCh38
NC_000012.11:g.8803086G>T , CM000674.1:g.8803086G>T	GRCh37
NC_000012.10:g.8694353G>T	NCBI36
NG_041814.1:g.17399C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359478.7:c.335+12C>A MANE Select	ENSP00000352455.2:n.335+12C>A
ENST00000359478.6:c.335+12C>A	ENSP00000352455.2:n.335+12C>A
ENST00000396549.6:c.305+12C>A	ENSP00000379798.2:n.305+12C>A
ENST00000433590.6:c.260+12C>A	ENSP00000411997.2:n.260+12C>A
ENST00000534833.5:n.398C>A
ENST00000535336.5:c.218-2287C>A	ENSP00000438525.1:n.218-2287C>A
ENST00000535411.5:c.304+12C>A
ENST00000537009.5:c.335+12C>A	ENSP00000439289.1:n.335+12C>A
ENST00000538694.5:n.294+12C>A
ENST00000540087.5:c.305+12C>A	ENSP00000440496.1:n.305+12C>A
ENST00000543369.5:c.269+12C>A	ENSP00000441492.1:n.269+12C>A
ENST00000543467.5:c.53+12C>A	ENSP00000444531.1:n.53+12C>A
ENST00000544211.5:c.305+12C>A	ENSP00000443839.1:n.305+12C>A
NM_001297709.1:c.305+12C>A	NP_001284638.1:n.305+12C>A
NM_001297710.1:c.269+12C>A	NP_001284639.1:n.269+12C>A
NM_001297711.1:c.260+12C>A	NP_001284640.1:n.260+12C>A
NM_001297712.1:c.218-2287C>A	NP_001284641.1:n.218-2287C>A
NM_003480.3:c.335+12C>A	NP_003471.1:n.335+12C>A
NR_123733.1:n.599+12C>A
NR_123734.1:n.569+12C>A
NM_003480.4:c.335+12C>A MANE Select	NP_003471.1:n.335+12C>A
NM_001297709.2:c.305+12C>A	NP_001284638.1:n.305+12C>A
NM_001297710.2:c.269+12C>A	NP_001284639.1:n.269+12C>A
NM_001297711.2:c.260+12C>A	NP_001284640.1:n.260+12C>A
NM_001297712.2:c.218-2287C>A	NP_001284641.1:n.218-2287C>A
NR_123733.2:n.537+12C>A
NR_123734.2:n.507+12C>A