Canonical Allele Identifier: CA151145

Gene: HFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91350738C>T , CM000663.2:g.91350738C>T	GRCh38
NC_000001.10:g.91816295C>T , CM000663.1:g.91816295C>T	GRCh37
NC_000001.9:g.91588883C>T	NCBI36
NG_034120.1:g.59132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370425.8:c.2206G>A MANE Select	ENSP00000359454.3:p.Gly736Ser
ENST00000370425.7:c.2206G>A	ENSP00000359454.3:p.Gly736Ser
ENST00000462405.5:n.132+1768G>A
NM_001017975.4:c.2206G>A	NP_001017975.4:p.Gly736Ser
XM_006710395.2:c.439G>A	XP_006710458.1:p.Gly147Ser
XM_011540847.1:c.2206G>A	XP_011539149.1:p.Gly736Ser
XM_011540848.1:c.2206G>A	XP_011539150.1:p.Gly736Ser
XM_011540849.1:c.2206G>A	XP_011539151.1:p.Gly736Ser
XM_011540850.1:c.2206G>A	XP_011539152.1:p.Gly736Ser
XM_011540851.1:c.2206G>A	XP_011539153.1:p.Gly736Ser
XM_011540852.1:c.2206G>A	XP_011539154.1:p.Gly736Ser
XM_011540853.1:c.2206G>A	XP_011539155.1:p.Gly736Ser
XM_011540854.1:c.2206G>A	XP_011539156.1:p.Gly736Ser
XM_011540855.1:c.2080G>A	XP_011539157.1:p.Gly694Ser
XM_011540856.1:c.2206G>A	XP_011539158.1:p.Gly736Ser
XM_011540857.1:c.1783G>A	XP_011539159.1:p.Gly595Ser
XM_011540858.1:c.1243G>A	XP_011539160.1:p.Gly415Ser
XM_011540859.1:c.1033G>A	XP_011539161.1:p.Gly345Ser
XM_011540860.1:c.2206G>A	XP_011539162.1:p.Gly736Ser
XR_946562.1:n.2233G>A
XM_011540850.2:c.2206G>A	XP_011539152.1:p.Gly736Ser
XM_011540852.2:c.2206G>A	XP_011539154.1:p.Gly736Ser
XM_011540855.2:c.2080G>A	XP_011539157.1:p.Gly694Ser
XM_011540859.2:c.1033G>A	XP_011539161.1:p.Gly345Ser
XM_017000490.1:c.2206G>A	XP_016855979.1:p.Gly736Ser
XM_017000491.1:c.2206G>A	XP_016855980.1:p.Gly736Ser
XM_017000492.1:c.1243G>A	XP_016855981.1:p.Gly415Ser
XM_017000493.1:c.535G>A	XP_016855982.1:p.Gly179Ser
XM_017000494.1:c.2206G>A	XP_016855983.1:p.Gly736Ser
XM_017000495.1:c.2206G>A	XP_016855984.1:p.Gly736Ser
XM_017000496.1:c.2206G>A	XP_016855985.1:p.Gly736Ser
XM_024453708.1:c.2206G>A	XP_024309476.1:p.Gly736Ser
XR_001737008.1:n.2249G>A
XR_001737009.1:n.2249G>A
XR_001737010.1:n.2249G>A
NM_001017975.5:c.2206G>A	NP_001017975.4:p.Gly736Ser
NM_001017975.6:c.2206G>A MANE Select	NP_001017975.5:p.Gly736Ser
NR_165455.1:n.2070+1768G>A