Canonical Allele Identifier: CA402541327

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55222135T>A (hg19) ; chr18:g.57554903T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554903T>A , CM000680.2:g.57554903T>A	GRCh38
NC_000018.9:g.55222135T>A , CM000680.1:g.55222135T>A	GRCh37
NC_000018.8:g.53373133T>A	NCBI36
NG_008175.1:g.36835A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592699.6:c.755A>T	ENSP00000466263.1:p.Gln252Leu
ENST00000682485.1:n.1029A>T
ENST00000262093.11:c.854A>T MANE Select	ENSP00000262093.6:p.Gln285Leu
ENST00000382873.8:c.638A>T	ENSP00000372326.4:p.Gln213Leu
ENST00000651787.1:n.960A>T
ENST00000651812.1:n.451A>T
ENST00000652755.1:c.872A>T	ENSP00000498358.1:p.Gln291Leu
ENST00000262093.9:c.854A>T	ENSP00000262093.5:p.Gln285Leu
ENST00000382873.7:c.872A>T	ENSP00000372326.3:p.Gln291Leu
ENST00000585494.5:c.*581A>T	ENSP00000465243.1:n.*581A>T
ENST00000591977.5:c.121A>T
ENST00000592699.5:c.755A>T	ENSP00000466263.1:p.Gln252Leu
NM_000140.3:c.854A>T	NP_000131.2:p.Gln285Leu
NM_001012515.2:c.872A>T	NP_001012533.1:p.Gln291Leu
XM_011525881.1:c.773A>T	XP_011524183.1:p.Gln258Leu
XM_011525882.1:c.638A>T	XP_011524184.1:p.Gln213Leu
NM_000140.4:c.854A>T	NP_000131.2:p.Gln285Leu
NM_001012515.3:c.872A>T	NP_001012533.1:p.Gln291Leu
XM_011525882.2:c.638A>T	XP_011524184.1:p.Gln213Leu
XM_017025614.2:c.755A>T	XP_016881103.1:p.Gln252Leu
NM_000140.5:c.854A>T MANE Select	NP_000131.2:p.Gln285Leu
NM_001012515.4:c.872A>T	NP_001012533.1:p.Gln291Leu
NM_001371094.1:c.755A>T	NP_001358023.1:p.Gln252Leu
NM_001371095.1:c.638A>T	NP_001358024.1:p.Gln213Leu
NM_001374778.1:c.854A>T	NP_001361707.1:p.Gln285Leu