Canonical Allele Identifier: CA2646538649
Gene: HFM1 HGNC NCBI

Linked Data

gnomAD v4: 1-91265973-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91265973G>T , CM000663.2:g.91265973G>T GRCh38
NC_000001.10:g.91731530G>T , CM000663.1:g.91731530G>T GRCh37
NC_000001.9:g.91504118G>T NCBI36
NG_034120.1:g.143897C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370425.8:c.3974+44C>A MANE Select ENSP00000359454.3:n.3974+44C>A
ENST00000370425.7:c.3974+44C>A ENSP00000359454.3:n.3974+44C>A
ENST00000430465.1:c.1609+44C>A
ENST00000462405.5:n.1809+1772C>A
NM_001017975.4:c.3974+44C>A NP_001017975.4:n.3974+44C>A
XM_006710395.2:c.2207+44C>A XP_006710458.1:n.2207+44C>A
XM_011540847.1:c.3971+44C>A XP_011539149.1:n.3971+44C>A
XM_011540848.1:c.3893+44C>A XP_011539150.1:n.3893+44C>A
XM_011540849.1:c.3974+44C>A XP_011539151.1:n.3974+44C>A
XM_011540850.1:c.3974+44C>A XP_011539152.1:n.3974+44C>A
XM_011540851.1:c.3974+44C>A XP_011539153.1:n.3974+44C>A
XM_011540852.1:c.3974+44C>A XP_011539154.1:n.3974+44C>A
XM_011540853.1:c.3842+44C>A XP_011539155.1:n.3842+44C>A
XM_011540854.1:c.3974+44C>A XP_011539156.1:n.3974+44C>A
XM_011540855.1:c.3848+44C>A XP_011539157.1:n.3848+44C>A
XM_011540856.1:c.3883+1772C>A XP_011539158.1:n.3883+1772C>A
XM_011540857.1:c.3551+44C>A XP_011539159.1:n.3551+44C>A
XM_011540858.1:c.3011+44C>A XP_011539160.1:n.3011+44C>A
XM_011540859.1:c.2801+44C>A XP_011539161.1:n.2801+44C>A
XM_011540850.2:c.3974+44C>A XP_011539152.1:n.3974+44C>A
XM_011540852.2:c.3974+44C>A XP_011539154.1:n.3974+44C>A
XM_011540855.2:c.3848+44C>A XP_011539157.1:n.3848+44C>A
XM_011540859.2:c.2801+44C>A XP_011539161.1:n.2801+44C>A
XM_017000490.1:c.3893+44C>A XP_016855979.1:n.3893+44C>A
XM_017000491.1:c.3842+44C>A XP_016855980.1:n.3842+44C>A
XM_017000492.1:c.3011+44C>A XP_016855981.1:n.3011+44C>A
XM_017000493.1:c.2303+44C>A XP_016855982.1:n.2303+44C>A
XR_001737008.1:n.3926+1772C>A
XR_001737009.1:n.3840+1772C>A
XR_001737010.1:n.3708+1772C>A
NM_001017975.5:c.3974+44C>A NP_001017975.4:n.3974+44C>A
NM_001017975.6:c.3974+44C>A MANE Select NP_001017975.5:n.3974+44C>A
NR_165455.1:n.3564+44C>A