Canonical Allele Identifier: CA402538827

Gene: FECH

Linked Data

• ClinVar Variation Id: 2503889
• ClinVar RCV Id: RCV003230880
• gnomAD v4: 18-57550720-G-A
• MyVariant Identifiers: chr18:g.55217952G>A (hg19) ; chr18:g.57550720G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.1264C>T MANE Select	ENSP00000262093.6:p.Gln422Ter
ENST00000382873.8:c.1048C>T	ENSP00000372326.4:p.Gln350Ter
ENST00000651787.1:n.1370C>T
ENST00000652755.1:c.1282C>T	ENSP00000498358.1:p.Gln428Ter
ENST00000262093.9:c.1264C>T	ENSP00000262093.5:p.Gln422Ter
ENST00000382873.7:c.1282C>T	ENSP00000372326.3:p.Gln428Ter
ENST00000585494.5:c.*991C>T	ENSP00000465243.1:n.*991C>T
NM_000140.3:c.1264C>T	NP_000131.2:p.Gln422Ter
NM_001012515.2:c.1282C>T	NP_001012533.1:p.Gln428Ter
XM_011525881.1:c.1183C>T	XP_011524183.1:p.Gln395Ter
XM_011525882.1:c.1048C>T	XP_011524184.1:p.Gln350Ter
NM_000140.4:c.1264C>T	NP_000131.2:p.Gln422Ter
NM_001012515.3:c.1282C>T	NP_001012533.1:p.Gln428Ter
XM_011525882.2:c.1048C>T	XP_011524184.1:p.Gln350Ter
XM_017025614.2:c.1165C>T	XP_016881103.1:p.Gln389Ter
NM_000140.5:c.1264C>T MANE Select	NP_000131.2:p.Gln422Ter
NM_001012515.4:c.1282C>T	NP_001012533.1:p.Gln428Ter
NM_001371094.1:c.1165C>T	NP_001358023.1:p.Gln389Ter
NM_001371095.1:c.1048C>T	NP_001358024.1:p.Gln350Ter
NM_001374778.1:c.1204C>T	NP_001361707.1:p.Gln402Ter