Canonical Allele Identifier: CA8973024

Gene: FECH

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554378T>C , CM000680.2:g.57554378T>C	GRCh38
NC_000018.9:g.55221610T>C , CM000680.1:g.55221610T>C	GRCh37
NC_000018.8:g.53372608T>C	NCBI36
NG_008175.1:g.37360A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000140.5:c.959A>G MANE Select	NP_000131.2:p.Lys320Arg
ENST00000262093.11:c.959A>G MANE Select	ENSP00000262093.6:p.Lys320Arg
NM_000140.3:c.959A>G	NP_000131.2:p.Lys320Arg
NM_000140.4:c.959A>G	NP_000131.2:p.Lys320Arg
NM_001012515.2:c.977A>G	NP_001012533.1:p.Lys326Arg
NM_001012515.3:c.977A>G	NP_001012533.1:p.Lys326Arg
NM_001012515.4:c.977A>G	NP_001012533.1:p.Lys326Arg
NM_001371094.1:c.860A>G	NP_001358023.1:p.Lys287Arg
NM_001371095.1:c.743A>G	NP_001358024.1:p.Lys248Arg
NM_001374778.1:c.959A>G	NP_001361707.1:p.Lys320Arg
ENST00000262093.9:c.959A>G	ENSP00000262093.5:p.Lys320Arg
ENST00000382873.7:c.977A>G	ENSP00000372326.3:p.Lys326Arg
ENST00000382873.8:c.743A>G	ENSP00000372326.4:p.Lys248Arg
ENST00000585494.5:c.*686A>G	ENSP00000465243.1:n.*686A>G
ENST00000591977.5:c.226A>G
ENST00000592699.5:c.860A>G	ENSP00000466263.1:p.Lys287Arg
ENST00000592699.6:c.860A>G	ENSP00000466263.1:p.Lys287Arg
ENST00000651787.1:n.1065A>G
ENST00000651812.1:n.556A>G
ENST00000652755.1:c.977A>G	ENSP00000498358.1:p.Lys326Arg
ENST00000682485.1:n.1134A>G
XM_011525881.1:c.878A>G	XP_011524183.1:p.Lys293Arg
XM_011525882.1:c.743A>G	XP_011524184.1:p.Lys248Arg
XM_011525882.2:c.743A>G	XP_011524184.1:p.Lys248Arg
XM_017025614.2:c.860A>G	XP_016881103.1:p.Lys287Arg