Canonical Allele Identifier: CA945435

Gene: HFM1

Linked Data

• dbSNP Id: rs770390628
• ExAC: 1:91731544 A / G
• gnomAD v2: 1-91731544-A-G
• gnomAD v3: 1-91265987-A-G
• gnomAD v4: 1-91265987-A-G
• MyVariant Identifiers: chr1:g.91731544A>G (hg19) ; chr1:g.91265987A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91265987A>G , CM000663.2:g.91265987A>G	GRCh38
NC_000001.10:g.91731544A>G , CM000663.1:g.91731544A>G	GRCh37
NC_000001.9:g.91504132A>G	NCBI36
NG_034120.1:g.143883T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370425.8:c.3974+30T>C MANE Select	ENSP00000359454.3:n.3974+30T>C
ENST00000370425.7:c.3974+30T>C	ENSP00000359454.3:n.3974+30T>C
ENST00000430465.1:c.1609+30T>C
ENST00000462405.5:n.1809+1758T>C
NM_001017975.4:c.3974+30T>C	NP_001017975.4:n.3974+30T>C
XM_006710395.2:c.2207+30T>C	XP_006710458.1:n.2207+30T>C
XM_011540847.1:c.3971+30T>C	XP_011539149.1:n.3971+30T>C
XM_011540848.1:c.3893+30T>C	XP_011539150.1:n.3893+30T>C
XM_011540849.1:c.3974+30T>C	XP_011539151.1:n.3974+30T>C
XM_011540850.1:c.3974+30T>C	XP_011539152.1:n.3974+30T>C
XM_011540851.1:c.3974+30T>C	XP_011539153.1:n.3974+30T>C
XM_011540852.1:c.3974+30T>C	XP_011539154.1:n.3974+30T>C
XM_011540853.1:c.3842+30T>C	XP_011539155.1:n.3842+30T>C
XM_011540854.1:c.3974+30T>C	XP_011539156.1:n.3974+30T>C
XM_011540855.1:c.3848+30T>C	XP_011539157.1:n.3848+30T>C
XM_011540856.1:c.3883+1758T>C	XP_011539158.1:n.3883+1758T>C
XM_011540857.1:c.3551+30T>C	XP_011539159.1:n.3551+30T>C
XM_011540858.1:c.3011+30T>C	XP_011539160.1:n.3011+30T>C
XM_011540859.1:c.2801+30T>C	XP_011539161.1:n.2801+30T>C
XM_011540850.2:c.3974+30T>C	XP_011539152.1:n.3974+30T>C
XM_011540852.2:c.3974+30T>C	XP_011539154.1:n.3974+30T>C
XM_011540855.2:c.3848+30T>C	XP_011539157.1:n.3848+30T>C
XM_011540859.2:c.2801+30T>C	XP_011539161.1:n.2801+30T>C
XM_017000490.1:c.3893+30T>C	XP_016855979.1:n.3893+30T>C
XM_017000491.1:c.3842+30T>C	XP_016855980.1:n.3842+30T>C
XM_017000492.1:c.3011+30T>C	XP_016855981.1:n.3011+30T>C
XM_017000493.1:c.2303+30T>C	XP_016855982.1:n.2303+30T>C
XR_001737008.1:n.3926+1758T>C
XR_001737009.1:n.3840+1758T>C
XR_001737010.1:n.3708+1758T>C
NM_001017975.5:c.3974+30T>C	NP_001017975.4:n.3974+30T>C
NM_001017975.6:c.3974+30T>C MANE Select	NP_001017975.5:n.3974+30T>C
NR_165455.1:n.3564+30T>C