Canonical Allele Identifier: CA402537043

Gene: FECH

Linked Data

• ClinVar Variation Id: 992439
• ClinVar RCV Id: RCV001280888
• dbSNP Id: rs2051141708
• MyVariant Identifiers: chr18:g.55240563C>T (hg19) ; chr18:g.57573331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57573331C>T , CM000680.2:g.57573331C>T	GRCh38
NC_000018.9:g.55240563C>T , CM000680.1:g.55240563C>T	GRCh37
NC_000018.8:g.53391561C>T	NCBI36
NG_008175.1:g.18407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.229G>A	ENSP00000466263.1:p.Gly77Arg
ENST00000682485.1:n.341G>A
ENST00000262093.11:c.229G>A MANE Select	ENSP00000262093.6:p.Gly77Arg
ENST00000382873.8:c.13G>A	ENSP00000372326.4:p.Gly5Arg
ENST00000651787.1:n.335G>A
ENST00000652755.1:c.247G>A	ENSP00000498358.1:p.Gly83Arg
ENST00000262093.9:c.229G>A	ENSP00000262093.5:p.Gly77Arg
ENST00000382873.7:c.247G>A	ENSP00000372326.3:p.Gly83Arg
ENST00000585494.5:c.229G>A	ENSP00000465243.1:p.Gly77Arg
ENST00000585699.1:n.181G>A
ENST00000585747.1:c.229G>A	ENSP00000465717.1:p.Gly77Arg
ENST00000585878.1:n.281G>A
ENST00000591215.5:c.13G>A	ENSP00000467461.1:p.Gly5Arg
ENST00000592111.1:n.230G>A
ENST00000592699.5:c.229G>A	ENSP00000466263.1:p.Gly77Arg
NM_000140.3:c.229G>A	NP_000131.2:p.Gly77Arg
NM_001012515.2:c.247G>A	NP_001012533.1:p.Gly83Arg
XM_011525881.1:c.247G>A	XP_011524183.1:p.Gly83Arg
XM_011525882.1:c.13G>A	XP_011524184.1:p.Gly5Arg
NM_000140.4:c.229G>A	NP_000131.2:p.Gly77Arg
NM_001012515.3:c.247G>A	NP_001012533.1:p.Gly83Arg
XM_011525882.2:c.13G>A	XP_011524184.1:p.Gly5Arg
XM_017025614.2:c.229G>A	XP_016881103.1:p.Gly77Arg
NM_000140.5:c.229G>A MANE Select	NP_000131.2:p.Gly77Arg
NM_001012515.4:c.247G>A	NP_001012533.1:p.Gly83Arg
NM_001371094.1:c.229G>A	NP_001358023.1:p.Gly77Arg
NM_001371095.1:c.13G>A	NP_001358024.1:p.Gly5Arg
NM_001374778.1:c.229G>A	NP_001361707.1:p.Gly77Arg