Canonical Allele Identifier: CA341049391

Gene: HFM1

Linked Data

• dbSNP Id: rs1160623243
• gnomAD v2: 1-91731623-G-C
• gnomAD v4: 1-91266066-G-C
• MyVariant Identifiers: chr1:g.91731623G>C (hg19) ; chr1:g.91266066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91266066G>C , CM000663.2:g.91266066G>C	GRCh38
NC_000001.10:g.91731623G>C , CM000663.1:g.91731623G>C	GRCh37
NC_000001.9:g.91504211G>C	NCBI36
NG_034120.1:g.143804C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370425.8:c.3925C>G MANE Select	ENSP00000359454.3:p.Leu1309Val
ENST00000370425.7:c.3925C>G	ENSP00000359454.3:p.Leu1309Val
ENST00000430465.1:c.1560C>G
ENST00000462405.5:n.1809+1679C>G
NM_001017975.4:c.3925C>G	NP_001017975.4:p.Leu1309Val
XM_006710395.2:c.2158C>G	XP_006710458.1:p.Leu720Val
XM_011540847.1:c.3922C>G	XP_011539149.1:p.Leu1308Val
XM_011540848.1:c.3844C>G	XP_011539150.1:p.Leu1282Val
XM_011540849.1:c.3925C>G	XP_011539151.1:p.Leu1309Val
XM_011540850.1:c.3925C>G	XP_011539152.1:p.Leu1309Val
XM_011540851.1:c.3925C>G	XP_011539153.1:p.Leu1309Val
XM_011540852.1:c.3925C>G	XP_011539154.1:p.Leu1309Val
XM_011540853.1:c.3793C>G	XP_011539155.1:p.Leu1265Val
XM_011540854.1:c.3925C>G	XP_011539156.1:p.Leu1309Val
XM_011540855.1:c.3799C>G	XP_011539157.1:p.Leu1267Val
XM_011540856.1:c.3883+1679C>G	XP_011539158.1:n.3883+1679C>G
XM_011540857.1:c.3502C>G	XP_011539159.1:p.Leu1168Val
XM_011540858.1:c.2962C>G	XP_011539160.1:p.Leu988Val
XM_011540859.1:c.2752C>G	XP_011539161.1:p.Leu918Val
XM_011540850.2:c.3925C>G	XP_011539152.1:p.Leu1309Val
XM_011540852.2:c.3925C>G	XP_011539154.1:p.Leu1309Val
XM_011540855.2:c.3799C>G	XP_011539157.1:p.Leu1267Val
XM_011540859.2:c.2752C>G	XP_011539161.1:p.Leu918Val
XM_017000490.1:c.3844C>G	XP_016855979.1:p.Leu1282Val
XM_017000491.1:c.3793C>G	XP_016855980.1:p.Leu1265Val
XM_017000492.1:c.2962C>G	XP_016855981.1:p.Leu988Val
XM_017000493.1:c.2254C>G	XP_016855982.1:p.Leu752Val
XR_001737008.1:n.3926+1679C>G
XR_001737009.1:n.3840+1679C>G
XR_001737010.1:n.3708+1679C>G
NM_001017975.5:c.3925C>G	NP_001017975.4:p.Leu1309Val
NM_001017975.6:c.3925C>G MANE Select	NP_001017975.5:p.Leu1309Val
NR_165455.1:n.3515C>G