Canonical Allele Identifier: CA341049386

Gene: HFM1

Linked Data

• COSMIC: COSM1627241
• MyVariant Identifiers: chr1:g.91731622A>G (hg19) ; chr1:g.91266065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91266065A>G , CM000663.2:g.91266065A>G	GRCh38
NC_000001.10:g.91731622A>G , CM000663.1:g.91731622A>G	GRCh37
NC_000001.9:g.91504210A>G	NCBI36
NG_034120.1:g.143805T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370425.8:c.3926T>C MANE Select	ENSP00000359454.3:p.Leu1309Pro
ENST00000370425.7:c.3926T>C	ENSP00000359454.3:p.Leu1309Pro
ENST00000430465.1:c.1561T>C
ENST00000462405.5:n.1809+1680T>C
NM_001017975.4:c.3926T>C	NP_001017975.4:p.Leu1309Pro
XM_006710395.2:c.2159T>C	XP_006710458.1:p.Leu720Pro
XM_011540847.1:c.3923T>C	XP_011539149.1:p.Leu1308Pro
XM_011540848.1:c.3845T>C	XP_011539150.1:p.Leu1282Pro
XM_011540849.1:c.3926T>C	XP_011539151.1:p.Leu1309Pro
XM_011540850.1:c.3926T>C	XP_011539152.1:p.Leu1309Pro
XM_011540851.1:c.3926T>C	XP_011539153.1:p.Leu1309Pro
XM_011540852.1:c.3926T>C	XP_011539154.1:p.Leu1309Pro
XM_011540853.1:c.3794T>C	XP_011539155.1:p.Leu1265Pro
XM_011540854.1:c.3926T>C	XP_011539156.1:p.Leu1309Pro
XM_011540855.1:c.3800T>C	XP_011539157.1:p.Leu1267Pro
XM_011540856.1:c.3883+1680T>C	XP_011539158.1:n.3883+1680T>C
XM_011540857.1:c.3503T>C	XP_011539159.1:p.Leu1168Pro
XM_011540858.1:c.2963T>C	XP_011539160.1:p.Leu988Pro
XM_011540859.1:c.2753T>C	XP_011539161.1:p.Leu918Pro
XM_011540850.2:c.3926T>C	XP_011539152.1:p.Leu1309Pro
XM_011540852.2:c.3926T>C	XP_011539154.1:p.Leu1309Pro
XM_011540855.2:c.3800T>C	XP_011539157.1:p.Leu1267Pro
XM_011540859.2:c.2753T>C	XP_011539161.1:p.Leu918Pro
XM_017000490.1:c.3845T>C	XP_016855979.1:p.Leu1282Pro
XM_017000491.1:c.3794T>C	XP_016855980.1:p.Leu1265Pro
XM_017000492.1:c.2963T>C	XP_016855981.1:p.Leu988Pro
XM_017000493.1:c.2255T>C	XP_016855982.1:p.Leu752Pro
XR_001737008.1:n.3926+1680T>C
XR_001737009.1:n.3840+1680T>C
XR_001737010.1:n.3708+1680T>C
NM_001017975.5:c.3926T>C	NP_001017975.4:p.Leu1309Pro
NM_001017975.6:c.3926T>C MANE Select	NP_001017975.5:p.Leu1309Pro
NR_165455.1:n.3516T>C