Canonical Allele Identifier: CA11738023
Gene: MARCHF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.164300819G>T , CM000666.2:g.164300819G>T GRCh38
NC_000004.11:g.165221971G>T , CM000666.1:g.165221971G>T GRCh37
NC_000004.10:g.165441421G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000514618.6:c.-323+83051C>A MANE Select ENSP00000421322.1:n.-323+83051C>A
ENST00000503008.5:c.-114+82368C>A ENSP00000427223.1:n.-114+82368C>A
ENST00000505391.5:n.311+29111C>A
ENST00000507270.5:c.-114+83051C>A ENSP00000426731.1:n.-114+83051C>A
ENST00000508725.5:n.332-65903C>A
ENST00000510075.1:n.331+82368C>A
ENST00000514618.5:c.-323+83051C>A ENSP00000421322.1:n.-323+83051C>A
ENST00000515471.5:n.380+82368C>A
NM_001166373.1:c.-114+82368C>A NP_001159845.1:n.-114+82368C>A
XM_011532056.1:c.-114+83051C>A XP_011530358.1:n.-114+83051C>A
XM_017008335.1:c.-186+82368C>A XP_016863824.1:n.-186+82368C>A
XM_017008336.1:c.-186+83051C>A XP_016863825.1:n.-186+83051C>A
NM_001166373.2:c.-114+82368C>A NP_001159845.1:n.-114+82368C>A
NM_001394959.1:c.-323+83051C>A MANE Select NP_001381888.1:n.-323+83051C>A
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