Canonical Allele Identifier: CA6434554

Gene: MFAP5

Linked Data

• ClinVar Variation Id: 1318077
• ClinVar RCV Id: RCV001759378
• dbSNP Id: rs373632449
• ExAC: 12:8800673 C / G
• gnomAD v2: 12-8800673-C-G
• gnomAD v3: 12-8648077-C-G
• gnomAD v4: 12-8648077-C-G
• MyVariant Identifiers: chr12:g.8800673C>G (hg19) ; chr12:g.8648077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648077C>G , CM000674.2:g.8648077C>G	GRCh38
NC_000012.11:g.8800673C>G , CM000674.1:g.8800673C>G	GRCh37
NC_000012.10:g.8691940C>G	NCBI36
NG_041814.1:g.19812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*14G>C MANE Select	ENSP00000352455.2:n.*14G>C
ENST00000359478.6:c.*14G>C	ENSP00000352455.2:n.*14G>C
ENST00000396549.6:c.*14G>C	ENSP00000379798.2:n.*14G>C
ENST00000433590.6:c.*14G>C	ENSP00000411997.2:n.*14G>C
ENST00000535336.5:c.*14G>C	ENSP00000438525.1:n.*14G>C
ENST00000535411.5:c.505G>C
ENST00000543369.5:c.*14G>C	ENSP00000441492.1:n.*14G>C
ENST00000543467.5:c.254G>C	ENSP00000444531.1:n.254G>C
ENST00000544211.5:c.*188G>C	ENSP00000443839.1:n.*188G>C
NM_001297709.1:c.*14G>C	NP_001284638.1:n.*14G>C
NM_001297710.1:c.*14G>C	NP_001284639.1:n.*14G>C
NM_001297711.1:c.*14G>C	NP_001284640.1:n.*14G>C
NM_001297712.1:c.*14G>C	NP_001284641.1:n.*14G>C
NM_003480.3:c.*14G>C	NP_003471.1:n.*14G>C
NR_123733.1:n.869G>C
NR_123734.1:n.839G>C
NM_003480.4:c.*14G>C MANE Select	NP_003471.1:n.*14G>C
NM_001297709.2:c.*14G>C	NP_001284638.1:n.*14G>C
NM_001297710.2:c.*14G>C	NP_001284639.1:n.*14G>C
NM_001297711.2:c.*14G>C	NP_001284640.1:n.*14G>C
NM_001297712.2:c.*14G>C	NP_001284641.1:n.*14G>C
NR_123733.2:n.807G>C
NR_123734.2:n.777G>C