Canonical Allele Identifier: CA402541349

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55222139C>G (hg19) ; chr18:g.57554907C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554907C>G , CM000680.2:g.57554907C>G	GRCh38
NC_000018.9:g.55222139C>G , CM000680.1:g.55222139C>G	GRCh37
NC_000018.8:g.53373137C>G	NCBI36
NG_008175.1:g.36831G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592699.6:c.751G>C	ENSP00000466263.1:p.Val251Leu
ENST00000682485.1:n.1025G>C
ENST00000262093.11:c.850G>C MANE Select	ENSP00000262093.6:p.Val284Leu
ENST00000382873.8:c.634G>C	ENSP00000372326.4:p.Val212Leu
ENST00000651787.1:n.956G>C
ENST00000651812.1:n.447G>C
ENST00000652755.1:c.868G>C	ENSP00000498358.1:p.Val290Leu
ENST00000262093.9:c.850G>C	ENSP00000262093.5:p.Val284Leu
ENST00000382873.7:c.868G>C	ENSP00000372326.3:p.Val290Leu
ENST00000585494.5:c.*577G>C	ENSP00000465243.1:n.*577G>C
ENST00000591977.5:c.117G>C
ENST00000592699.5:c.751G>C	ENSP00000466263.1:p.Val251Leu
NM_000140.3:c.850G>C	NP_000131.2:p.Val284Leu
NM_001012515.2:c.868G>C	NP_001012533.1:p.Val290Leu
XM_011525881.1:c.769G>C	XP_011524183.1:p.Val257Leu
XM_011525882.1:c.634G>C	XP_011524184.1:p.Val212Leu
NM_000140.4:c.850G>C	NP_000131.2:p.Val284Leu
NM_001012515.3:c.868G>C	NP_001012533.1:p.Val290Leu
XM_011525882.2:c.634G>C	XP_011524184.1:p.Val212Leu
XM_017025614.2:c.751G>C	XP_016881103.1:p.Val251Leu
NM_000140.5:c.850G>C MANE Select	NP_000131.2:p.Val284Leu
NM_001012515.4:c.868G>C	NP_001012533.1:p.Val290Leu
NM_001371094.1:c.751G>C	NP_001358023.1:p.Val251Leu
NM_001371095.1:c.634G>C	NP_001358024.1:p.Val212Leu
NM_001374778.1:c.850G>C	NP_001361707.1:p.Val284Leu