Canonical Allele Identifier: CA402538915
Community Standard Title: NM_000140.5(FECH):c.1225C>G (p.Pro409Ala)
Gene: FECH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57550759G>C , CM000680.2:g.57550759G>C GRCh38
NC_000018.9:g.55217991G>C , CM000680.1:g.55217991G>C GRCh37
NC_000018.8:g.53368989G>C NCBI36
NG_008175.1:g.40979C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000140.5:c.1225C>G MANE Select NP_000131.2:p.Pro409Ala
ENST00000262093.11:c.1225C>G MANE Select ENSP00000262093.6:p.Pro409Ala
NM_000140.3:c.1225C>G NP_000131.2:p.Pro409Ala
NM_000140.4:c.1225C>G NP_000131.2:p.Pro409Ala
NM_001012515.2:c.1243C>G NP_001012533.1:p.Pro415Ala
NM_001012515.3:c.1243C>G NP_001012533.1:p.Pro415Ala
NM_001012515.4:c.1243C>G NP_001012533.1:p.Pro415Ala
NM_001371094.1:c.1126C>G NP_001358023.1:p.Pro376Ala
NM_001371095.1:c.1009C>G NP_001358024.1:p.Pro337Ala
NM_001374778.1:c.1165C>G NP_001361707.1:p.Pro389Ala
ENST00000262093.9:c.1225C>G ENSP00000262093.5:p.Pro409Ala
ENST00000382873.7:c.1243C>G ENSP00000372326.3:p.Pro415Ala
ENST00000382873.8:c.1009C>G ENSP00000372326.4:p.Pro337Ala
ENST00000585494.5:c.*952C>G ENSP00000465243.1:n.*952C>G
ENST00000651787.1:n.1331C>G
ENST00000652755.1:c.1243C>G ENSP00000498358.1:p.Pro415Ala
XM_011525881.1:c.1144C>G XP_011524183.1:p.Pro382Ala
XM_011525882.1:c.1009C>G XP_011524184.1:p.Pro337Ala
XM_011525882.2:c.1009C>G XP_011524184.1:p.Pro337Ala
XM_017025614.2:c.1126C>G XP_016881103.1:p.Pro376Ala