Canonical Allele Identifier: CA402538814

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55217945C>G (hg19) ; chr18:g.57550713C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550713C>G , CM000680.2:g.57550713C>G	GRCh38
NC_000018.9:g.55217945C>G , CM000680.1:g.55217945C>G	GRCh37
NC_000018.8:g.53368943C>G	NCBI36
NG_008175.1:g.41025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.1271G>C MANE Select	ENSP00000262093.6:p.Ter424Ser
ENST00000382873.8:c.1055G>C	ENSP00000372326.4:p.Ter352Ser
ENST00000651787.1:n.1377G>C
ENST00000652755.1:c.1289G>C	ENSP00000498358.1:p.Ter430Ser
ENST00000262093.9:c.1271G>C	ENSP00000262093.5:p.Ter424Ser
ENST00000382873.7:c.1289G>C	ENSP00000372326.3:p.Ter430Ser
ENST00000585494.5:c.*998G>C	ENSP00000465243.1:n.*998G>C
NM_000140.3:c.1271G>C	NP_000131.2:p.Ter424Ser
NM_001012515.2:c.1289G>C	NP_001012533.1:p.Ter430Ser
XM_011525881.1:c.1190G>C	XP_011524183.1:p.Ter397Ser
XM_011525882.1:c.1055G>C	XP_011524184.1:p.Ter352Ser
NM_000140.4:c.1271G>C	NP_000131.2:p.Ter424Ser
NM_001012515.3:c.1289G>C	NP_001012533.1:p.Ter430Ser
XM_011525882.2:c.1055G>C	XP_011524184.1:p.Ter352Ser
XM_017025614.2:c.1172G>C	XP_016881103.1:p.Ter391Ser
NM_000140.5:c.1271G>C MANE Select	NP_000131.2:p.Ter424Ser
NM_001012515.4:c.1289G>C	NP_001012533.1:p.Ter430Ser
NM_001371094.1:c.1172G>C	NP_001358023.1:p.Ter391Ser
NM_001371095.1:c.1055G>C	NP_001358024.1:p.Ter352Ser
NM_001374778.1:c.1211G>C	NP_001361707.1:p.Ter404Ser