Canonical Allele Identifier: CA259953
Gene: FECH HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57566492C>T , CM000680.2:g.57566492C>T GRCh38
NC_000018.9:g.55233724C>T , CM000680.1:g.55233724C>T GRCh37
NC_000018.8:g.53384722C>T NCBI36
NG_008175.1:g.25246G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592699.6:c.553G>A ENSP00000466263.1:p.Ala185Thr
ENST00000682485.1:n.728G>A
ENST00000262093.11:c.553G>A MANE Select ENSP00000262093.6:p.Ala185Thr
ENST00000382873.8:c.337G>A ENSP00000372326.4:p.Ala113Thr
ENST00000651787.1:n.659G>A
ENST00000652755.1:c.571G>A ENSP00000498358.1:p.Ala191Thr
ENST00000262093.9:c.553G>A ENSP00000262093.5:p.Ala185Thr
ENST00000382873.7:c.571G>A ENSP00000372326.3:p.Ala191Thr
ENST00000585494.5:c.*280G>A ENSP00000465243.1:n.*280G>A
ENST00000592699.5:c.553G>A ENSP00000466263.1:p.Ala185Thr
NM_000140.3:c.553G>A NP_000131.2:p.Ala185Thr
NM_001012515.2:c.571G>A NP_001012533.1:p.Ala191Thr
XM_011525881.1:c.571G>A XP_011524183.1:p.Ala191Thr
XM_011525882.1:c.337G>A XP_011524184.1:p.Ala113Thr
NM_000140.4:c.553G>A NP_000131.2:p.Ala185Thr
NM_001012515.3:c.571G>A NP_001012533.1:p.Ala191Thr
XM_011525882.2:c.337G>A XP_011524184.1:p.Ala113Thr
XM_017025614.2:c.553G>A XP_016881103.1:p.Ala185Thr
NM_000140.5:c.553G>A MANE Select NP_000131.2:p.Ala185Thr
NM_001012515.4:c.571G>A NP_001012533.1:p.Ala191Thr
NM_001371094.1:c.553G>A NP_001358023.1:p.Ala185Thr
NM_001371095.1:c.337G>A NP_001358024.1:p.Ala113Thr
NM_001374778.1:c.553G>A NP_001361707.1:p.Ala185Thr