Canonical Allele Identifier: CA402538864

Gene: FECH

Linked Data

• gnomAD v4: 18-57550737-G-A
• MyVariant Identifiers: chr18:g.55217969G>A (hg19) ; chr18:g.57550737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550737G>A , CM000680.2:g.57550737G>A	GRCh38
NC_000018.9:g.55217969G>A , CM000680.1:g.55217969G>A	GRCh37
NC_000018.8:g.53368967G>A	NCBI36
NG_008175.1:g.41001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.1247C>T MANE Select	ENSP00000262093.6:p.Ser416Phe
ENST00000382873.8:c.1031C>T	ENSP00000372326.4:p.Ser344Phe
ENST00000651787.1:n.1353C>T
ENST00000652755.1:c.1265C>T	ENSP00000498358.1:p.Ser422Phe
ENST00000262093.9:c.1247C>T	ENSP00000262093.5:p.Ser416Phe
ENST00000382873.7:c.1265C>T	ENSP00000372326.3:p.Ser422Phe
ENST00000585494.5:c.*974C>T	ENSP00000465243.1:n.*974C>T
NM_000140.3:c.1247C>T	NP_000131.2:p.Ser416Phe
NM_001012515.2:c.1265C>T	NP_001012533.1:p.Ser422Phe
XM_011525881.1:c.1166C>T	XP_011524183.1:p.Ser389Phe
XM_011525882.1:c.1031C>T	XP_011524184.1:p.Ser344Phe
NM_000140.4:c.1247C>T	NP_000131.2:p.Ser416Phe
NM_001012515.3:c.1265C>T	NP_001012533.1:p.Ser422Phe
XM_011525882.2:c.1031C>T	XP_011524184.1:p.Ser344Phe
XM_017025614.2:c.1148C>T	XP_016881103.1:p.Ser383Phe
NM_000140.5:c.1247C>T MANE Select	NP_000131.2:p.Ser416Phe
NM_001012515.4:c.1265C>T	NP_001012533.1:p.Ser422Phe
NM_001371094.1:c.1148C>T	NP_001358023.1:p.Ser383Phe
NM_001371095.1:c.1031C>T	NP_001358024.1:p.Ser344Phe
NM_001374778.1:c.1187C>T	NP_001361707.1:p.Ser396Phe