Canonical Allele Identifier: CA6434580

Gene: MFAP5

Linked Data

• ClinVar Variation Id: 392223
• ClinVar RCV Id: RCV000431653 ; RCV002063627 ; RCV002502590
• dbSNP Id: rs151240610
• ExAC: 12:8800817 C / T
• gnomAD v2: 12-8800817-C-T
• gnomAD v3: 12-8648221-C-T
• gnomAD v4: 12-8648221-C-T
• MyVariant Identifiers: chr12:g.8800817C>T (hg19) ; chr12:g.8648221C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648221C>T , CM000674.2:g.8648221C>T	GRCh38
NC_000012.11:g.8800817C>T , CM000674.1:g.8800817C>T	GRCh37
NC_000012.10:g.8692084C>T	NCBI36
NG_041814.1:g.19668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.410-18G>A MANE Select	ENSP00000352455.2:n.410-18G>A
ENST00000359478.6:c.410-18G>A	ENSP00000352455.2:n.410-18G>A
ENST00000396549.6:c.380-18G>A	ENSP00000379798.2:n.380-18G>A
ENST00000433590.6:c.335-18G>A	ENSP00000411997.2:n.335-18G>A
ENST00000535336.5:c.218-18G>A	ENSP00000438525.1:n.218-18G>A
ENST00000535411.5:c.379-18G>A
ENST00000537009.5:c.*62-18G>A	ENSP00000439289.1:n.*62-18G>A
ENST00000538694.5:n.369-18G>A
ENST00000540087.5:c.380-18G>A	ENSP00000440496.1:n.380-18G>A
ENST00000543369.5:c.344-18G>A	ENSP00000441492.1:n.344-18G>A
ENST00000543467.5:c.128-18G>A	ENSP00000444531.1:n.128-18G>A
ENST00000544211.5:c.*62-18G>A	ENSP00000443839.1:n.*62-18G>A
NM_001297709.1:c.380-18G>A	NP_001284638.1:n.380-18G>A
NM_001297710.1:c.344-18G>A	NP_001284639.1:n.344-18G>A
NM_001297711.1:c.335-18G>A	NP_001284640.1:n.335-18G>A
NM_001297712.1:c.218-18G>A	NP_001284641.1:n.218-18G>A
NM_003480.3:c.410-18G>A	NP_003471.1:n.410-18G>A
NR_123733.1:n.743-18G>A
NR_123734.1:n.713-18G>A
NM_003480.4:c.410-18G>A MANE Select	NP_003471.1:n.410-18G>A
NM_001297709.2:c.380-18G>A	NP_001284638.1:n.380-18G>A
NM_001297710.2:c.344-18G>A	NP_001284639.1:n.344-18G>A
NM_001297711.2:c.335-18G>A	NP_001284640.1:n.335-18G>A
NM_001297712.2:c.218-18G>A	NP_001284641.1:n.218-18G>A
NR_123733.2:n.681-18G>A
NR_123734.2:n.651-18G>A