Canonical Allele Identifier: CA5773490
Gene: IFITM5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.299391G>A
GRCh37 chr11:g.299391G>A
gnomAD v2:
11:299391 G / A
gnomAD v3:
11:299391 G / A
gnomAD v4:
chr11-299391-G-A
Joint Max Group AF 0.00003202 (EAS)
Exomes Max Group AF 0.00003608 (EAS)
ClinVar RCV:
RCV000286092
RCV000763734
ClinVar Variation:
290777
dbSNP:
531009160
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.299391G>A , CM000673.2:g.299391G>A GRCh38
NC_000011.9:g.299391G>A , CM000673.1:g.299391G>A GRCh37
NC_000011.8:g.289391G>A NCBI36
NG_032892.1:g.5136C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382614.2:c.100C>T MANE Select ENSP00000372059.2:p.Arg34Ter
NM_001025295.2:c.100C>T NP_001020466.1:p.Arg34Ter
NM_001025295.3:c.100C>T MANE Select NP_001020466.1:p.Arg34Ter
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