Canonical Allele Identifier: CA200342

Gene: IFITM5

Linked Data

• ClinVar Variation Id: 193131
• ClinVar RCV Id: RCV000173177 ; RCV000612030 ; RCV002054039
• dbSNP Id: rs57285449
• ExAC: 11:299411 C / G
• gnomAD v2: 11-299411-C-G
• gnomAD v3: 11-299411-C-G
• gnomAD v4: 11-299411-C-G
• MyVariant Identifiers: chr11:g.299411C>G (hg19) ; chr11:g.299411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.299411C>G , CM000673.2:g.299411C>G	GRCh38
NC_000011.9:g.299411C>G , CM000673.1:g.299411C>G	GRCh37
NC_000011.8:g.289411C>G	NCBI36
NG_032892.1:g.5116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382614.2:c.80G>C MANE Select	ENSP00000372059.2:p.Gly27Ala
NM_001025295.2:c.80G>C	NP_001020466.1:p.Gly27Ala
NM_001025295.3:c.80G>C MANE Select	NP_001020466.1:p.Gly27Ala