Canonical Allele Identifier: CA8973073

Gene: FECH

Linked Data

• dbSNP Id: rs777810461
• ExAC: 18:55222120 C / T
• gnomAD v2: 18-55222120-C-T
• gnomAD v4: 18-57554888-C-T
• MyVariant Identifiers: chr18:g.55222120C>T (hg19) ; chr18:g.57554888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554888C>T , CM000680.2:g.57554888C>T	GRCh38
NC_000018.9:g.55222120C>T , CM000680.1:g.55222120C>T	GRCh37
NC_000018.8:g.53373118C>T	NCBI36
NG_008175.1:g.36850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.770G>A	ENSP00000466263.1:p.Arg257Lys
ENST00000682485.1:n.1044G>A
ENST00000262093.11:c.869G>A MANE Select	ENSP00000262093.6:p.Arg290Lys
ENST00000382873.8:c.653G>A	ENSP00000372326.4:p.Arg218Lys
ENST00000651787.1:n.975G>A
ENST00000651812.1:n.466G>A
ENST00000652755.1:c.887G>A	ENSP00000498358.1:p.Arg296Lys
ENST00000262093.9:c.869G>A	ENSP00000262093.5:p.Arg290Lys
ENST00000382873.7:c.887G>A	ENSP00000372326.3:p.Arg296Lys
ENST00000585494.5:c.*596G>A	ENSP00000465243.1:n.*596G>A
ENST00000591977.5:c.136G>A
ENST00000592699.5:c.770G>A	ENSP00000466263.1:p.Arg257Lys
NM_000140.3:c.869G>A	NP_000131.2:p.Arg290Lys
NM_001012515.2:c.887G>A	NP_001012533.1:p.Arg296Lys
XM_011525881.1:c.788G>A	XP_011524183.1:p.Arg263Lys
XM_011525882.1:c.653G>A	XP_011524184.1:p.Arg218Lys
NM_000140.4:c.869G>A	NP_000131.2:p.Arg290Lys
NM_001012515.3:c.887G>A	NP_001012533.1:p.Arg296Lys
XM_011525882.2:c.653G>A	XP_011524184.1:p.Arg218Lys
XM_017025614.2:c.770G>A	XP_016881103.1:p.Arg257Lys
NM_000140.5:c.869G>A MANE Select	NP_000131.2:p.Arg290Lys
NM_001012515.4:c.887G>A	NP_001012533.1:p.Arg296Lys
NM_001371094.1:c.770G>A	NP_001358023.1:p.Arg257Lys
NM_001371095.1:c.653G>A	NP_001358024.1:p.Arg218Lys
NM_001374778.1:c.869G>A	NP_001361707.1:p.Arg290Lys