Canonical Allele Identifier: CA026511
Gene: FECH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.[57550753A>C;57550759G>A;57550760A>T] , CM000680.2:g.[57550753A>C;57550759G>A;57550760A>T] GRCh38
NC_000018.9:g.[55217985A>C;55217991G>A;55217992A>T] , CM000680.1:g.[55217985A>C;55217991G>A;55217992A>T] GRCh37
NC_000018.8:g.[53368983A>C;53368989G>A;53368990A>T] NCBI36
NG_008175.1:g.[40978T>A;40979C>T;40985T>G]

Transcript Alleles

HGVS Amino-acid Change
ENST00000262093.11:c.[1224T>A;1225C>T;1231T>G] MANE Select ENSP00000262093.6:p.[Asn408Lys;Pro409Ser;Cys411Gly]
ENST00000382873.8:c.[1008T>A;1009C>T;1015T>G] ENSP00000372326.4:p.[Asn336_Pro337delinsLysSer;Cys339Gly]
ENST00000651787.1:n.[1330T>A;1331C>T;1337T>G]
ENST00000652755.1:c.[1242T>A;1243C>T;1249T>G] ENSP00000498358.1:p.[Asn414Lys;Pro415Ser;Cys417Gly]
ENST00000262093.9:c.[1224T>A;1225C>T;1231T>G] ENSP00000262093.5:p.[Asn408_Pro409delinsLysSer;Cys411Gly]
ENST00000382873.7:c.[1242T>A;1243C>T;1249T>G] ENSP00000372326.3:p.[Asn414Lys;Pro415Ser;Cys417Gly]
ENST00000585494.5:c.[*951T>A;*952C>T;*958T>G] ENSP00000465243.1:n.[*951T>A;*952C>T;*958T>G]
NM_000140.3:c.[1224T>A;1225C>T;1231T>G] NP_000131.2:p.[Asn408_Pro409delinsLysSer;Cys411Gly]
NM_001012515.2:c.[1242T>A;1243C>T;1249T>G] NP_001012533.1:p.[Asn414_Pro415delinsLysSer;Cys417Gly]
XM_011525881.1:c.[1143T>A;1144C>T;1150T>G] XP_011524183.1:p.[Asn381Lys;Pro382Ser;Cys384Gly]
XM_011525882.1:c.[1008T>A;1009C>T;1015T>G] XP_011524184.1:p.[Asn336_Pro337delinsLysSer;Cys339Gly]
NM_000140.4:c.[1224T>A;1225C>T;1231T>G] NP_000131.2:p.[Asn408Lys;Pro409Ser;Cys411Gly]
NM_001012515.3:c.[1242T>A;1243C>T;1249T>G] NP_001012533.1:p.[Asn414Lys;Pro415Ser;Cys417Gly]
XM_011525882.2:c.[1008T>A;1009C>T;1015T>G] XP_011524184.1:p.[Asn336Lys;Pro337Ser;Cys339Gly]
XM_017025614.2:c.[1125T>A;1126C>T;1132T>G] XP_016881103.1:p.[Asn375_Pro376delinsLysSer;Cys378Gly]
NM_000140.5:c.[1224T>A;1225C>T;1231T>G] MANE Select NP_000131.2:p.[Asn408Lys;Pro409Ser;Cys411Gly]
NM_001012515.4:c.[1242T>A;1243C>T;1249T>G] NP_001012533.1:p.[Asn414Lys;Pro415Ser;Cys417Gly]
NM_001371094.1:c.[1125T>A;1126C>T;1132T>G] NP_001358023.1:p.[Asn375Lys;Pro376Ser;Cys378Gly]
NM_001371095.1:c.[1008T>A;1009C>T;1015T>G] NP_001358024.1:p.[Asn336_Pro337delinsLysSer;Cys339Gly]
NM_001374778.1:c.[1164T>A;1165C>T;1171T>G] NP_001361707.1:p.[Asn388Lys;Pro389Ser;Cys391Gly]