Canonical Allele Identifier: CA8973099

Gene: FECH

Linked Data

• dbSNP Id: rs745678636
• ExAC: 18:55222234 C / T
• gnomAD v2: 18-55222234-C-T
• gnomAD v4: 18-57555002-C-T
• MyVariant Identifiers: chr18:g.55222234C>T (hg19) ; chr18:g.57555002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57555002C>T , CM000680.2:g.57555002C>T	GRCh38
NC_000018.9:g.55222234C>T , CM000680.1:g.55222234C>T	GRCh37
NC_000018.8:g.53373232C>T	NCBI36
NG_008175.1:g.36736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.706-50G>A	ENSP00000466263.1:n.706-50G>A
ENST00000682485.1:n.980-50G>A
ENST00000262093.11:c.805-50G>A MANE Select	ENSP00000262093.6:n.805-50G>A
ENST00000382873.8:c.589-50G>A	ENSP00000372326.4:n.589-50G>A
ENST00000651787.1:n.911-50G>A
ENST00000651812.1:n.402-50G>A
ENST00000652755.1:c.823-50G>A	ENSP00000498358.1:n.823-50G>A
ENST00000262093.9:c.805-50G>A	ENSP00000262093.5:n.805-50G>A
ENST00000382873.7:c.823-50G>A	ENSP00000372326.3:n.823-50G>A
ENST00000585494.5:c.*532-50G>A	ENSP00000465243.1:n.*532-50G>A
ENST00000591977.5:c.72-50G>A
ENST00000592699.5:c.706-50G>A	ENSP00000466263.1:n.706-50G>A
NM_000140.3:c.805-50G>A	NP_000131.2:n.805-50G>A
NM_001012515.2:c.823-50G>A	NP_001012533.1:n.823-50G>A
XM_011525881.1:c.724-50G>A	XP_011524183.1:n.724-50G>A
XM_011525882.1:c.589-50G>A	XP_011524184.1:n.589-50G>A
NM_000140.4:c.805-50G>A	NP_000131.2:n.805-50G>A
NM_001012515.3:c.823-50G>A	NP_001012533.1:n.823-50G>A
XM_011525882.2:c.589-50G>A	XP_011524184.1:n.589-50G>A
XM_017025614.2:c.706-50G>A	XP_016881103.1:n.706-50G>A
NM_000140.5:c.805-50G>A MANE Select	NP_000131.2:n.805-50G>A
NM_001012515.4:c.823-50G>A	NP_001012533.1:n.823-50G>A
NM_001371094.1:c.706-50G>A	NP_001358023.1:n.706-50G>A
NM_001371095.1:c.589-50G>A	NP_001358024.1:n.589-50G>A
NM_001374778.1:c.805-50G>A	NP_001361707.1:n.805-50G>A