Canonical Allele Identifier: CA402541365

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55222142T>G (hg19) ; chr18:g.57554910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554910T>G , CM000680.2:g.57554910T>G	GRCh38
NC_000018.9:g.55222142T>G , CM000680.1:g.55222142T>G	GRCh37
NC_000018.8:g.53373140T>G	NCBI36
NG_008175.1:g.36828A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592699.6:c.748A>C	ENSP00000466263.1:p.Thr250Pro
ENST00000682485.1:n.1022A>C
ENST00000262093.11:c.847A>C MANE Select	ENSP00000262093.6:p.Thr283Pro
ENST00000382873.8:c.631A>C	ENSP00000372326.4:p.Thr211Pro
ENST00000651787.1:n.953A>C
ENST00000651812.1:n.444A>C
ENST00000652755.1:c.865A>C	ENSP00000498358.1:p.Thr289Pro
ENST00000262093.9:c.847A>C	ENSP00000262093.5:p.Thr283Pro
ENST00000382873.7:c.865A>C	ENSP00000372326.3:p.Thr289Pro
ENST00000585494.5:c.*574A>C	ENSP00000465243.1:n.*574A>C
ENST00000591977.5:c.114A>C
ENST00000592699.5:c.748A>C	ENSP00000466263.1:p.Thr250Pro
NM_000140.3:c.847A>C	NP_000131.2:p.Thr283Pro
NM_001012515.2:c.865A>C	NP_001012533.1:p.Thr289Pro
XM_011525881.1:c.766A>C	XP_011524183.1:p.Thr256Pro
XM_011525882.1:c.631A>C	XP_011524184.1:p.Thr211Pro
NM_000140.4:c.847A>C	NP_000131.2:p.Thr283Pro
NM_001012515.3:c.865A>C	NP_001012533.1:p.Thr289Pro
XM_011525882.2:c.631A>C	XP_011524184.1:p.Thr211Pro
XM_017025614.2:c.748A>C	XP_016881103.1:p.Thr250Pro
NM_000140.5:c.847A>C MANE Select	NP_000131.2:p.Thr283Pro
NM_001012515.4:c.865A>C	NP_001012533.1:p.Thr289Pro
NM_001371094.1:c.748A>C	NP_001358023.1:p.Thr250Pro
NM_001371095.1:c.631A>C	NP_001358024.1:p.Thr211Pro
NM_001374778.1:c.847A>C	NP_001361707.1:p.Thr283Pro