Canonical Allele Identifier: CA5773516

Gene: IFITM5

Linked Data

• ClinVar Variation Id: 1702010
• ClinVar RCV Id: RCV002277795 ; RCV003120874 ; RCV003698897
• dbSNP Id: rs552104680
• ExAC: 11:299423 G / A
• gnomAD v2: 11-299423-G-A
• gnomAD v3: 11-299423-G-A
• gnomAD v4: 11-299423-G-A
• MyVariant Identifiers: chr11:g.299423G>A (hg19) ; chr11:g.299423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.299423G>A , CM000673.2:g.299423G>A	GRCh38
NC_000011.9:g.299423G>A , CM000673.1:g.299423G>A	GRCh37
NC_000011.8:g.289423G>A	NCBI36
NG_032892.1:g.5104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382614.2:c.68C>T MANE Select	ENSP00000372059.2:p.Ala23Val
NM_001025295.2:c.68C>T	NP_001020466.1:p.Ala23Val
NM_001025295.3:c.68C>T MANE Select	NP_001020466.1:p.Ala23Val