Canonical Allele Identifier: CA300835076

Gene: FECH

Linked Data

• dbSNP Id: rs118204037
• MyVariant Identifiers: chr18:g.55226380C>A (hg19) ; chr18:g.57559148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57559148C>A , CM000680.2:g.57559148C>A	GRCh38
NC_000018.9:g.55226380C>A , CM000680.1:g.55226380C>A	GRCh37
NC_000018.8:g.53377378C>A	NCBI36
NG_008175.1:g.32590G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592699.6:c.705+3726G>T	ENSP00000466263.1:n.705+3726G>T
ENST00000682485.1:n.976G>T
ENST00000262093.11:c.801G>T MANE Select	ENSP00000262093.6:p.Met267Ile
ENST00000382873.8:c.585G>T	ENSP00000372326.4:p.Met195Ile
ENST00000651787.1:n.907G>T
ENST00000651812.1:n.398G>T
ENST00000652755.1:c.819G>T	ENSP00000498358.1:p.Met273Ile
ENST00000262093.9:c.801G>T	ENSP00000262093.5:p.Met267Ile
ENST00000382873.7:c.819G>T	ENSP00000372326.3:p.Met273Ile
ENST00000585494.5:c.*528G>T	ENSP00000465243.1:n.*528G>T
ENST00000591977.5:c.68G>T
ENST00000592699.5:c.705+3726G>T	ENSP00000466263.1:n.705+3726G>T
NM_000140.3:c.801G>T	NP_000131.2:p.Met267Ile
NM_001012515.2:c.819G>T	NP_001012533.1:p.Met273Ile
XM_011525881.1:c.723+3726G>T	XP_011524183.1:n.723+3726G>T
XM_011525882.1:c.585G>T	XP_011524184.1:p.Met195Ile
NM_000140.4:c.801G>T	NP_000131.2:p.Met267Ile
NM_001012515.3:c.819G>T	NP_001012533.1:p.Met273Ile
XM_011525882.2:c.585G>T	XP_011524184.1:p.Met195Ile
XM_017025614.2:c.705+3726G>T	XP_016881103.1:n.705+3726G>T
NM_000140.5:c.801G>T MANE Select	NP_000131.2:p.Met267Ile
NM_001012515.4:c.819G>T	NP_001012533.1:p.Met273Ile
NM_001371094.1:c.705+3726G>T	NP_001358023.1:n.705+3726G>T
NM_001371095.1:c.585G>T	NP_001358024.1:p.Met195Ile
NM_001374778.1:c.801G>T	NP_001361707.1:p.Met267Ile