Canonical Allele Identifier: CA504012753

Gene: FECH

Linked Data

• gnomAD v4: 18-57554935-G-A
• MyVariant Identifiers: chr18:g.55222167G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554935G>A , CM000680.2:g.57554935G>A	GRCh38
NC_000018.9:g.55222167G>A , CM000680.1:g.55222167G>A	GRCh37
NC_000018.8:g.53373165G>A	NCBI36
NG_008175.1:g.36803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.723C>T	ENSP00000466263.1:p.Asp241=
ENST00000682485.1:n.997C>T
ENST00000262093.11:c.822C>T MANE Select	ENSP00000262093.6:p.Asp274=
ENST00000382873.8:c.606C>T	ENSP00000372326.4:p.Asp202=
ENST00000651787.1:n.928C>T
ENST00000651812.1:n.419C>T
ENST00000652755.1:c.840C>T	ENSP00000498358.1:p.Asp280=
ENST00000262093.9:c.822C>T	ENSP00000262093.5:p.Asp274=
ENST00000382873.7:c.840C>T	ENSP00000372326.3:p.Asp280=
ENST00000585494.5:c.*549C>T	ENSP00000465243.1:n.*549C>T
ENST00000591977.5:c.89C>T
ENST00000592699.5:c.723C>T	ENSP00000466263.1:p.Asp241=
NM_000140.3:c.822C>T	NP_000131.2:p.Asp274=
NM_001012515.2:c.840C>T	NP_001012533.1:p.Asp280=
XM_011525881.1:c.741C>T	XP_011524183.1:p.Asp247=
XM_011525882.1:c.606C>T	XP_011524184.1:p.Asp202=
NM_000140.4:c.822C>T	NP_000131.2:p.Asp274=
NM_001012515.3:c.840C>T	NP_001012533.1:p.Asp280=
XM_011525882.2:c.606C>T	XP_011524184.1:p.Asp202=
XM_017025614.2:c.723C>T	XP_016881103.1:p.Asp241=
NM_000140.5:c.822C>T MANE Select	NP_000131.2:p.Asp274=
NM_001012515.4:c.840C>T	NP_001012533.1:p.Asp280=
NM_001371094.1:c.723C>T	NP_001358023.1:p.Asp241=
NM_001371095.1:c.606C>T	NP_001358024.1:p.Asp202=
NM_001374778.1:c.822C>T	NP_001361707.1:p.Asp274=