Canonical Allele Identifier: CA402541356

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55222141G>C (hg19) ; chr18:g.57554909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554909G>C , CM000680.2:g.57554909G>C	GRCh38
NC_000018.9:g.55222141G>C , CM000680.1:g.55222141G>C	GRCh37
NC_000018.8:g.53373139G>C	NCBI36
NG_008175.1:g.36829C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592699.6:c.749C>G	ENSP00000466263.1:p.Thr250Ser
ENST00000682485.1:n.1023C>G
ENST00000262093.11:c.848C>G MANE Select	ENSP00000262093.6:p.Thr283Ser
ENST00000382873.8:c.632C>G	ENSP00000372326.4:p.Thr211Ser
ENST00000651787.1:n.954C>G
ENST00000651812.1:n.445C>G
ENST00000652755.1:c.866C>G	ENSP00000498358.1:p.Thr289Ser
ENST00000262093.9:c.848C>G	ENSP00000262093.5:p.Thr283Ser
ENST00000382873.7:c.866C>G	ENSP00000372326.3:p.Thr289Ser
ENST00000585494.5:c.*575C>G	ENSP00000465243.1:n.*575C>G
ENST00000591977.5:c.115C>G
ENST00000592699.5:c.749C>G	ENSP00000466263.1:p.Thr250Ser
NM_000140.3:c.848C>G	NP_000131.2:p.Thr283Ser
NM_001012515.2:c.866C>G	NP_001012533.1:p.Thr289Ser
XM_011525881.1:c.767C>G	XP_011524183.1:p.Thr256Ser
XM_011525882.1:c.632C>G	XP_011524184.1:p.Thr211Ser
NM_000140.4:c.848C>G	NP_000131.2:p.Thr283Ser
NM_001012515.3:c.866C>G	NP_001012533.1:p.Thr289Ser
XM_011525882.2:c.632C>G	XP_011524184.1:p.Thr211Ser
XM_017025614.2:c.749C>G	XP_016881103.1:p.Thr250Ser
NM_000140.5:c.848C>G MANE Select	NP_000131.2:p.Thr283Ser
NM_001012515.4:c.866C>G	NP_001012533.1:p.Thr289Ser
NM_001371094.1:c.749C>G	NP_001358023.1:p.Thr250Ser
NM_001371095.1:c.632C>G	NP_001358024.1:p.Thr211Ser
NM_001374778.1:c.848C>G	NP_001361707.1:p.Thr283Ser