Canonical Allele Identifier: CA945448

Gene: HFM1

Linked Data

• dbSNP Id: rs753011716
• ExAC: 1:91731619 G / T
• gnomAD v2: 1-91731619-G-T
• MyVariant Identifiers: chr1:g.91731619G>T (hg19) ; chr1:g.91266062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91266062G>T , CM000663.2:g.91266062G>T	GRCh38
NC_000001.10:g.91731619G>T , CM000663.1:g.91731619G>T	GRCh37
NC_000001.9:g.91504207G>T	NCBI36
NG_034120.1:g.143808C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370425.8:c.3929C>A MANE Select	ENSP00000359454.3:p.Pro1310His
ENST00000370425.7:c.3929C>A	ENSP00000359454.3:p.Pro1310His
ENST00000430465.1:c.1564C>A
ENST00000462405.5:n.1809+1683C>A
NM_001017975.4:c.3929C>A	NP_001017975.4:p.Pro1310His
XM_006710395.2:c.2162C>A	XP_006710458.1:p.Pro721His
XM_011540847.1:c.3926C>A	XP_011539149.1:p.Pro1309His
XM_011540848.1:c.3848C>A	XP_011539150.1:p.Pro1283His
XM_011540849.1:c.3929C>A	XP_011539151.1:p.Pro1310His
XM_011540850.1:c.3929C>A	XP_011539152.1:p.Pro1310His
XM_011540851.1:c.3929C>A	XP_011539153.1:p.Pro1310His
XM_011540852.1:c.3929C>A	XP_011539154.1:p.Pro1310His
XM_011540853.1:c.3797C>A	XP_011539155.1:p.Pro1266His
XM_011540854.1:c.3929C>A	XP_011539156.1:p.Pro1310His
XM_011540855.1:c.3803C>A	XP_011539157.1:p.Pro1268His
XM_011540856.1:c.3883+1683C>A	XP_011539158.1:n.3883+1683C>A
XM_011540857.1:c.3506C>A	XP_011539159.1:p.Pro1169His
XM_011540858.1:c.2966C>A	XP_011539160.1:p.Pro989His
XM_011540859.1:c.2756C>A	XP_011539161.1:p.Pro919His
XM_011540850.2:c.3929C>A	XP_011539152.1:p.Pro1310His
XM_011540852.2:c.3929C>A	XP_011539154.1:p.Pro1310His
XM_011540855.2:c.3803C>A	XP_011539157.1:p.Pro1268His
XM_011540859.2:c.2756C>A	XP_011539161.1:p.Pro919His
XM_017000490.1:c.3848C>A	XP_016855979.1:p.Pro1283His
XM_017000491.1:c.3797C>A	XP_016855980.1:p.Pro1266His
XM_017000492.1:c.2966C>A	XP_016855981.1:p.Pro989His
XM_017000493.1:c.2258C>A	XP_016855982.1:p.Pro753His
XR_001737008.1:n.3926+1683C>A
XR_001737009.1:n.3840+1683C>A
XR_001737010.1:n.3708+1683C>A
NM_001017975.5:c.3929C>A	NP_001017975.4:p.Pro1310His
NM_001017975.6:c.3929C>A MANE Select	NP_001017975.5:p.Pro1310His
NR_165455.1:n.3519C>A