Canonical Allele Identifier: CA238638

Gene: IFITM5

Linked Data

• ClinVar Variation Id: 193130
• ClinVar RCV Id: RCV000173176 ; RCV003955007
• dbSNP Id: rs770089325
• ExAC: 11:299500 C / T
• gnomAD v2: 11-299500-C-T
• gnomAD v3: 11-299500-C-T
• gnomAD v4: 11-299500-C-T
• MyVariant Identifiers: chr11:g.299500C>T (hg19) ; chr11:g.299500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.299500C>T , CM000673.2:g.299500C>T	GRCh38
NC_000011.9:g.299500C>T , CM000673.1:g.299500C>T	GRCh37
NC_000011.8:g.289500C>T	NCBI36
NG_032892.1:g.5027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382614.2:c.-10G>A MANE Select	ENSP00000372059.2:n.-10G>A
NM_001025295.2:c.-10G>A	NP_001020466.1:n.-10G>A
NM_001025295.3:c.-10G>A MANE Select	NP_001020466.1:n.-10G>A