Canonical Allele Identifier: CA10641836

Gene: FECH

Linked Data

• ClinVar Variation Id: 327416
• ClinVar RCV Id: RCV000404019
• dbSNP Id: rs3760612
• gnomAD v2: 18-55217522-A-T
• gnomAD v3: 18-57550290-A-T
• gnomAD v4: 18-57550290-A-T
• MyVariant Identifiers: chr18:g.55217522A>T (hg19) ; chr18:g.57550290A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550290A>T , CM000680.2:g.57550290A>T	GRCh38
NC_000018.9:g.55217522A>T , CM000680.1:g.55217522A>T	GRCh37
NC_000018.8:g.53368520A>T	NCBI36
NG_008175.1:g.41448T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.*422T>A MANE Select	ENSP00000262093.6:n.*422T>A
ENST00000382873.8:c.*422T>A	ENSP00000372326.4:n.*422T>A
ENST00000651787.1:n.1800T>A
ENST00000652755.1:c.*422T>A	ENSP00000498358.1:n.*422T>A
ENST00000262093.9:c.*422T>A	ENSP00000262093.5:n.*422T>A
ENST00000382873.7:c.*422T>A	ENSP00000372326.3:n.*422T>A
ENST00000585494.5:c.*1421T>A	ENSP00000465243.1:n.*1421T>A
NM_000140.3:c.*422T>A	NP_000131.2:n.*422T>A
NM_001012515.2:c.*422T>A	NP_001012533.1:n.*422T>A
XM_011525881.1:c.*422T>A	XP_011524183.1:n.*422T>A
XM_011525882.1:c.*422T>A	XP_011524184.1:n.*422T>A
NM_000140.4:c.*422T>A	NP_000131.2:n.*422T>A
NM_001012515.3:c.*422T>A	NP_001012533.1:n.*422T>A
XM_011525882.2:c.*422T>A	XP_011524184.1:n.*422T>A
XM_017025614.2:c.*422T>A	XP_016881103.1:n.*422T>A
NM_000140.5:c.*422T>A MANE Select	NP_000131.2:n.*422T>A
NM_001012515.4:c.*422T>A	NP_001012533.1:n.*422T>A
NM_001371094.1:c.*422T>A	NP_001358023.1:n.*422T>A
NM_001371095.1:c.*422T>A	NP_001358024.1:n.*422T>A
NM_001374778.1:c.*422T>A	NP_001361707.1:n.*422T>A