Canonical Allele Identifier: CA5773527

Gene: IFITM5

Linked Data

• ClinVar Variation Id: 1563813
• ClinVar RCV Id: RCV002216473 ; RCV002277007 ; RCV003958570 ; RCV004045609
• dbSNP Id: rs568880098
• ExAC: 11:299457 C / A
• gnomAD v2: 11-299457-C-A
• gnomAD v3: 11-299457-C-A
• gnomAD v4: 11-299457-C-A
• MyVariant Identifiers: chr11:g.299457C>A (hg19) ; chr11:g.299457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.299457C>A , CM000673.2:g.299457C>A	GRCh38
NC_000011.9:g.299457C>A , CM000673.1:g.299457C>A	GRCh37
NC_000011.8:g.289457C>A	NCBI36
NG_032892.1:g.5070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382614.2:c.34G>T MANE Select	ENSP00000372059.2:p.Ala12Ser
NM_001025295.2:c.34G>T	NP_001020466.1:p.Ala12Ser
NM_001025295.3:c.34G>T MANE Select	NP_001020466.1:p.Ala12Ser