Canonical Allele Identifier: CA216923170
Gene: IFITM3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.320394C>G , CM000673.2:g.320394C>G GRCh38
NC_000011.9:g.320394C>G , CM000673.1:g.320394C>G GRCh37
NC_000011.8:g.310394C>G NCBI36
NG_032755.1:g.5521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399808.5:c.249+171G>C MANE Select ENSP00000382707.4:n.249+171G>C
ENST00000531688.2:c.250-146G>C ENSP00000473645.2:n.250-146G>C
ENST00000679382.1:c.249+171G>C ENSP00000505839.1:n.249+171G>C
ENST00000679793.1:n.30+71G>C
ENST00000680209.1:c.249+171G>C ENSP00000505330.1:n.249+171G>C
ENST00000680920.1:n.30+97G>C
ENST00000680932.1:n.448G>C
ENST00000681198.1:c.253+167G>C ENSP00000506488.1:n.253+167G>C
ENST00000681304.1:c.85-48G>C ENSP00000506507.1:n.85-48G>C
ENST00000681840.1:c.66-41G>C ENSP00000505867.1:n.66-41G>C
ENST00000399808.4:c.249+171G>C ENSP00000382707.4:n.249+171G>C
ENST00000526811.4:c.186+171G>C ENSP00000432108.1:n.186+171G>C
ENST00000531688.1:c.120-146G>C
ENST00000602735.2:c.186+171G>C ENSP00000473544.1:n.186+171G>C
NM_021034.2:c.249+171G>C NP_066362.2:n.249+171G>C
NR_049759.1:n.350+171G>C
NM_021034.3:c.249+171G>C MANE Select NP_066362.2:n.249+171G>C
NR_049759.2:n.296+171G>C