Canonical Allele Identifier: CA402538817

Gene: FECH

Linked Data

• MyVariant Identifiers: chr18:g.55217948A>C (hg19) ; chr18:g.57550716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550716A>C , CM000680.2:g.57550716A>C	GRCh38
NC_000018.9:g.55217948A>C , CM000680.1:g.55217948A>C	GRCh37
NC_000018.8:g.53368946A>C	NCBI36
NG_008175.1:g.41022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.1268T>G MANE Select	ENSP00000262093.6:p.Leu423Arg
ENST00000382873.8:c.1052T>G	ENSP00000372326.4:p.Leu351Arg
ENST00000651787.1:n.1374T>G
ENST00000652755.1:c.1286T>G	ENSP00000498358.1:p.Leu429Arg
ENST00000262093.9:c.1268T>G	ENSP00000262093.5:p.Leu423Arg
ENST00000382873.7:c.1286T>G	ENSP00000372326.3:p.Leu429Arg
ENST00000585494.5:c.*995T>G	ENSP00000465243.1:n.*995T>G
NM_000140.3:c.1268T>G	NP_000131.2:p.Leu423Arg
NM_001012515.2:c.1286T>G	NP_001012533.1:p.Leu429Arg
XM_011525881.1:c.1187T>G	XP_011524183.1:p.Leu396Arg
XM_011525882.1:c.1052T>G	XP_011524184.1:p.Leu351Arg
NM_000140.4:c.1268T>G	NP_000131.2:p.Leu423Arg
NM_001012515.3:c.1286T>G	NP_001012533.1:p.Leu429Arg
XM_011525882.2:c.1052T>G	XP_011524184.1:p.Leu351Arg
XM_017025614.2:c.1169T>G	XP_016881103.1:p.Leu390Arg
NM_000140.5:c.1268T>G MANE Select	NP_000131.2:p.Leu423Arg
NM_001012515.4:c.1286T>G	NP_001012533.1:p.Leu429Arg
NM_001371094.1:c.1169T>G	NP_001358023.1:p.Leu390Arg
NM_001371095.1:c.1052T>G	NP_001358024.1:p.Leu351Arg
NM_001374778.1:c.1208T>G	NP_001361707.1:p.Leu403Arg