Canonical Allele Identifier: CA2306047388
Community Standard Title: NM_000140.5(FECH):c.1001C= (p.Pro334=)
Gene: FECH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57554336G= , CM000680.2:g.57554336G= GRCh38
NC_000018.9:g.55221568G= , CM000680.1:g.55221568G= GRCh37
NC_000018.8:g.53372566G= NCBI36
NG_008175.1:g.37402C=

Transcript Alleles

HGVS Amino-acid Change
NM_000140.5:c.1001C= MANE Select NP_000131.2:p.Pro334=
ENST00000262093.11:c.1001C= MANE Select ENSP00000262093.6:p.Pro334=
NM_000140.3:c.1001C= NP_000131.2:p.Pro334=
NM_000140.4:c.1001C= NP_000131.2:p.Pro334=
NM_001012515.2:c.1019C= NP_001012533.1:p.Pro340=
NM_001012515.3:c.1019C= NP_001012533.1:p.Pro340=
NM_001012515.4:c.1019C= NP_001012533.1:p.Pro340=
NM_001371094.1:c.902C= NP_001358023.1:p.Pro301=
NM_001371095.1:c.785C= NP_001358024.1:p.Pro262=
NM_001374778.1:c.1001C= NP_001361707.1:p.Pro334=
ENST00000262093.9:c.1001C= ENSP00000262093.5:p.Pro334=
ENST00000382873.7:c.1019C= ENSP00000372326.3:p.Pro340=
ENST00000382873.8:c.785C= ENSP00000372326.4:p.Pro262=
ENST00000585494.5:c.*728C= ENSP00000465243.1:n.*728C=
ENST00000591977.5:c.268C=
ENST00000592699.5:c.902C= ENSP00000466263.1:p.Pro301=
ENST00000592699.6:c.902C= ENSP00000466263.1:p.Pro301=
ENST00000651787.1:n.1107C=
ENST00000651812.1:n.598C=
ENST00000652755.1:c.1019C= ENSP00000498358.1:p.Pro340=
ENST00000682485.1:n.1176C=
XM_011525881.1:c.920C= XP_011524183.1:p.Pro307=
XM_011525882.1:c.785C= XP_011524184.1:p.Pro262=
XM_011525882.2:c.785C= XP_011524184.1:p.Pro262=
XM_017025614.2:c.902C= XP_016881103.1:p.Pro301=