Canonical Allele Identifier: CA402537122

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55240576T>A (hg19) ; chr18:g.57573344T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57573344T>A , CM000680.2:g.57573344T>A	GRCh38
NC_000018.9:g.55240576T>A , CM000680.1:g.55240576T>A	GRCh37
NC_000018.8:g.53391574T>A	NCBI36
NG_008175.1:g.18394A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.216A>T	ENSP00000466263.1:p.Leu72Phe
ENST00000682485.1:n.328A>T
ENST00000262093.11:c.216A>T MANE Select	ENSP00000262093.6:p.Leu72Phe
ENST00000382873.8:c.-1A>T	ENSP00000372326.4:n.-1A>T
ENST00000651787.1:n.322A>T
ENST00000652755.1:c.234A>T	ENSP00000498358.1:p.Leu78Phe
ENST00000262093.9:c.216A>T	ENSP00000262093.5:p.Leu72Phe
ENST00000382873.7:c.234A>T	ENSP00000372326.3:p.Leu78Phe
ENST00000585494.5:c.216A>T	ENSP00000465243.1:p.Leu72Phe
ENST00000585699.1:n.168A>T
ENST00000585747.1:c.216A>T	ENSP00000465717.1:p.Leu72Phe
ENST00000585878.1:n.268A>T
ENST00000591215.5:c.-1A>T	ENSP00000467461.1:n.-1A>T
ENST00000592111.1:n.217A>T
ENST00000592699.5:c.216A>T	ENSP00000466263.1:p.Leu72Phe
NM_000140.3:c.216A>T	NP_000131.2:p.Leu72Phe
NM_001012515.2:c.234A>T	NP_001012533.1:p.Leu78Phe
XM_011525881.1:c.234A>T	XP_011524183.1:p.Leu78Phe
XM_011525882.1:c.-1A>T	XP_011524184.1:n.-1A>T
NM_000140.4:c.216A>T	NP_000131.2:p.Leu72Phe
NM_001012515.3:c.234A>T	NP_001012533.1:p.Leu78Phe
XM_011525882.2:c.-1A>T	XP_011524184.1:n.-1A>T
XM_017025614.2:c.216A>T	XP_016881103.1:p.Leu72Phe
NM_000140.5:c.216A>T MANE Select	NP_000131.2:p.Leu72Phe
NM_001012515.4:c.234A>T	NP_001012533.1:p.Leu78Phe
NM_001371094.1:c.216A>T	NP_001358023.1:p.Leu72Phe
NM_001371095.1:c.-1A>T	NP_001358024.1:n.-1A>T
NM_001374778.1:c.216A>T	NP_001361707.1:p.Leu72Phe