Canonical Allele Identifier: CA402535565
Gene: FECH HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57559148C>G , CM000680.2:g.57559148C>G GRCh38
NC_000018.9:g.55226380C>G , CM000680.1:g.55226380C>G GRCh37
NC_000018.8:g.53377378C>G NCBI36
NG_008175.1:g.32590G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592699.6:c.705+3726G>C ENSP00000466263.1:n.705+3726G>C
ENST00000682485.1:n.976G>C
ENST00000262093.11:c.801G>C MANE Select ENSP00000262093.6:p.Met267Ile
ENST00000382873.8:c.585G>C ENSP00000372326.4:p.Met195Ile
ENST00000651787.1:n.907G>C
ENST00000651812.1:n.398G>C
ENST00000652755.1:c.819G>C ENSP00000498358.1:p.Met273Ile
ENST00000262093.9:c.801G>C ENSP00000262093.5:p.Met267Ile
ENST00000382873.7:c.819G>C ENSP00000372326.3:p.Met273Ile
ENST00000585494.5:c.*528G>C ENSP00000465243.1:n.*528G>C
ENST00000591977.5:c.68G>C
ENST00000592699.5:c.705+3726G>C ENSP00000466263.1:n.705+3726G>C
NM_000140.3:c.801G>C NP_000131.2:p.Met267Ile
NM_001012515.2:c.819G>C NP_001012533.1:p.Met273Ile
XM_011525881.1:c.723+3726G>C XP_011524183.1:n.723+3726G>C
XM_011525882.1:c.585G>C XP_011524184.1:p.Met195Ile
NM_000140.4:c.801G>C NP_000131.2:p.Met267Ile
NM_001012515.3:c.819G>C NP_001012533.1:p.Met273Ile
XM_011525882.2:c.585G>C XP_011524184.1:p.Met195Ile
XM_017025614.2:c.705+3726G>C XP_016881103.1:n.705+3726G>C
NM_000140.5:c.801G>C MANE Select NP_000131.2:p.Met267Ile
NM_001012515.4:c.819G>C NP_001012533.1:p.Met273Ile
NM_001371094.1:c.705+3726G>C NP_001358023.1:n.705+3726G>C
NM_001371095.1:c.585G>C NP_001358024.1:p.Met195Ile
NM_001374778.1:c.801G>C NP_001361707.1:p.Met267Ile