Canonical Allele Identifier: CA339823
Gene: FECH HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57571588A>G , CM000680.2:g.57571588A>G GRCh38
NC_000018.9:g.55238820A>G , CM000680.1:g.55238820A>G GRCh37
NC_000018.8:g.53389818A>G NCBI36
NG_008175.1:g.20150T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592699.6:c.315-48T>C ENSP00000466263.1:n.315-48T>C
ENST00000682485.1:n.442T>C
ENST00000262093.11:c.315-48T>C MANE Select ENSP00000262093.6:n.315-48T>C
ENST00000382873.8:c.99-48T>C ENSP00000372326.4:n.99-48T>C
ENST00000651787.1:n.421-48T>C
ENST00000652755.1:c.333-48T>C ENSP00000498358.1:n.333-48T>C
ENST00000262093.9:c.315-48T>C ENSP00000262093.5:n.315-48T>C
ENST00000382873.7:c.333-48T>C ENSP00000372326.3:n.333-48T>C
ENST00000585494.5:c.330T>C ENSP00000465243.1:p.Gly110=
ENST00000585699.1:n.282T>C
ENST00000585747.1:c.315-48T>C ENSP00000465717.1:n.315-48T>C
ENST00000591215.5:c.99-48T>C ENSP00000467461.1:n.99-48T>C
ENST00000592699.5:c.315-48T>C ENSP00000466263.1:n.315-48T>C
NM_000140.3:c.315-48T>C NP_000131.2:n.315-48T>C
NM_001012515.2:c.333-48T>C NP_001012533.1:n.333-48T>C
XM_011525881.1:c.333-48T>C XP_011524183.1:n.333-48T>C
XM_011525882.1:c.99-48T>C XP_011524184.1:n.99-48T>C
NM_000140.4:c.315-48T>C NP_000131.2:n.315-48T>C
NM_001012515.3:c.333-48T>C NP_001012533.1:n.333-48T>C
XM_011525882.2:c.99-48T>C XP_011524184.1:n.99-48T>C
XM_017025614.2:c.315-48T>C XP_016881103.1:n.315-48T>C
NM_000140.5:c.315-48T>C MANE Select NP_000131.2:n.315-48T>C
NM_001012515.4:c.333-48T>C NP_001012533.1:n.333-48T>C
NM_001371094.1:c.315-48T>C NP_001358023.1:n.315-48T>C
NM_001371095.1:c.99-48T>C NP_001358024.1:n.99-48T>C
NM_001374778.1:c.315-48T>C NP_001361707.1:n.315-48T>C