Canonical Allele Identifier: CA341049376

Gene: HFM1

Linked Data

• MyVariant Identifiers: chr1:g.91731620G>A (hg19) ; chr1:g.91266063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91266063G>A , CM000663.2:g.91266063G>A	GRCh38
NC_000001.10:g.91731620G>A , CM000663.1:g.91731620G>A	GRCh37
NC_000001.9:g.91504208G>A	NCBI36
NG_034120.1:g.143807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370425.8:c.3928C>T MANE Select	ENSP00000359454.3:p.Pro1310Ser
ENST00000370425.7:c.3928C>T	ENSP00000359454.3:p.Pro1310Ser
ENST00000430465.1:c.1563C>T
ENST00000462405.5:n.1809+1682C>T
NM_001017975.4:c.3928C>T	NP_001017975.4:p.Pro1310Ser
XM_006710395.2:c.2161C>T	XP_006710458.1:p.Pro721Ser
XM_011540847.1:c.3925C>T	XP_011539149.1:p.Pro1309Ser
XM_011540848.1:c.3847C>T	XP_011539150.1:p.Pro1283Ser
XM_011540849.1:c.3928C>T	XP_011539151.1:p.Pro1310Ser
XM_011540850.1:c.3928C>T	XP_011539152.1:p.Pro1310Ser
XM_011540851.1:c.3928C>T	XP_011539153.1:p.Pro1310Ser
XM_011540852.1:c.3928C>T	XP_011539154.1:p.Pro1310Ser
XM_011540853.1:c.3796C>T	XP_011539155.1:p.Pro1266Ser
XM_011540854.1:c.3928C>T	XP_011539156.1:p.Pro1310Ser
XM_011540855.1:c.3802C>T	XP_011539157.1:p.Pro1268Ser
XM_011540856.1:c.3883+1682C>T	XP_011539158.1:n.3883+1682C>T
XM_011540857.1:c.3505C>T	XP_011539159.1:p.Pro1169Ser
XM_011540858.1:c.2965C>T	XP_011539160.1:p.Pro989Ser
XM_011540859.1:c.2755C>T	XP_011539161.1:p.Pro919Ser
XM_011540850.2:c.3928C>T	XP_011539152.1:p.Pro1310Ser
XM_011540852.2:c.3928C>T	XP_011539154.1:p.Pro1310Ser
XM_011540855.2:c.3802C>T	XP_011539157.1:p.Pro1268Ser
XM_011540859.2:c.2755C>T	XP_011539161.1:p.Pro919Ser
XM_017000490.1:c.3847C>T	XP_016855979.1:p.Pro1283Ser
XM_017000491.1:c.3796C>T	XP_016855980.1:p.Pro1266Ser
XM_017000492.1:c.2965C>T	XP_016855981.1:p.Pro989Ser
XM_017000493.1:c.2257C>T	XP_016855982.1:p.Pro753Ser
XR_001737008.1:n.3926+1682C>T
XR_001737009.1:n.3840+1682C>T
XR_001737010.1:n.3708+1682C>T
NM_001017975.5:c.3928C>T	NP_001017975.4:p.Pro1310Ser
NM_001017975.6:c.3928C>T MANE Select	NP_001017975.5:p.Pro1310Ser
NR_165455.1:n.3518C>T