Canonical Allele Identifier: CA504011557

Gene: FECH

Linked Data

• gnomAD v4: 18-57550754-G-C
• MyVariant Identifiers: chr18:g.55217986G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550754G>C , CM000680.2:g.57550754G>C	GRCh38
NC_000018.9:g.55217986G>C , CM000680.1:g.55217986G>C	GRCh37
NC_000018.8:g.53368984G>C	NCBI36
NG_008175.1:g.40984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.1230C>G MANE Select	ENSP00000262093.6:p.Val410=
ENST00000382873.8:c.1014C>G	ENSP00000372326.4:p.Val338=
ENST00000651787.1:n.1336C>G
ENST00000652755.1:c.1248C>G	ENSP00000498358.1:p.Val416=
ENST00000262093.9:c.1230C>G	ENSP00000262093.5:p.Val410=
ENST00000382873.7:c.1248C>G	ENSP00000372326.3:p.Val416=
ENST00000585494.5:c.*957C>G	ENSP00000465243.1:n.*957C>G
NM_000140.3:c.1230C>G	NP_000131.2:p.Val410=
NM_001012515.2:c.1248C>G	NP_001012533.1:p.Val416=
XM_011525881.1:c.1149C>G	XP_011524183.1:p.Val383=
XM_011525882.1:c.1014C>G	XP_011524184.1:p.Val338=
NM_000140.4:c.1230C>G	NP_000131.2:p.Val410=
NM_001012515.3:c.1248C>G	NP_001012533.1:p.Val416=
XM_011525882.2:c.1014C>G	XP_011524184.1:p.Val338=
XM_017025614.2:c.1131C>G	XP_016881103.1:p.Val377=
NM_000140.5:c.1230C>G MANE Select	NP_000131.2:p.Val410=
NM_001012515.4:c.1248C>G	NP_001012533.1:p.Val416=
NM_001371094.1:c.1131C>G	NP_001358023.1:p.Val377=
NM_001371095.1:c.1014C>G	NP_001358024.1:p.Val338=
NM_001374778.1:c.1170C>G	NP_001361707.1:p.Val390=