Canonical Allele Identifier: CA402538829

Gene: FECH

Linked Data

• gnomAD v4: 18-57550720-G-T
• MyVariant Identifiers: chr18:g.55217952G>T (hg19) ; chr18:g.57550720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550720G>T , CM000680.2:g.57550720G>T	GRCh38
NC_000018.9:g.55217952G>T , CM000680.1:g.55217952G>T	GRCh37
NC_000018.8:g.53368950G>T	NCBI36
NG_008175.1:g.41018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.1264C>A MANE Select	ENSP00000262093.6:p.Gln422Lys
ENST00000382873.8:c.1048C>A	ENSP00000372326.4:p.Gln350Lys
ENST00000651787.1:n.1370C>A
ENST00000652755.1:c.1282C>A	ENSP00000498358.1:p.Gln428Lys
ENST00000262093.9:c.1264C>A	ENSP00000262093.5:p.Gln422Lys
ENST00000382873.7:c.1282C>A	ENSP00000372326.3:p.Gln428Lys
ENST00000585494.5:c.*991C>A	ENSP00000465243.1:n.*991C>A
NM_000140.3:c.1264C>A	NP_000131.2:p.Gln422Lys
NM_001012515.2:c.1282C>A	NP_001012533.1:p.Gln428Lys
XM_011525881.1:c.1183C>A	XP_011524183.1:p.Gln395Lys
XM_011525882.1:c.1048C>A	XP_011524184.1:p.Gln350Lys
NM_000140.4:c.1264C>A	NP_000131.2:p.Gln422Lys
NM_001012515.3:c.1282C>A	NP_001012533.1:p.Gln428Lys
XM_011525882.2:c.1048C>A	XP_011524184.1:p.Gln350Lys
XM_017025614.2:c.1165C>A	XP_016881103.1:p.Gln389Lys
NM_000140.5:c.1264C>A MANE Select	NP_000131.2:p.Gln422Lys
NM_001012515.4:c.1282C>A	NP_001012533.1:p.Gln428Lys
NM_001371094.1:c.1165C>A	NP_001358023.1:p.Gln389Lys
NM_001371095.1:c.1048C>A	NP_001358024.1:p.Gln350Lys
NM_001374778.1:c.1204C>A	NP_001361707.1:p.Gln402Lys