Canonical Allele Identifier: CA341049398

Gene: HFM1

Linked Data

• MyVariant Identifiers: chr1:g.91731624C>G (hg19) ; chr1:g.91266067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91266067C>G , CM000663.2:g.91266067C>G	GRCh38
NC_000001.10:g.91731624C>G , CM000663.1:g.91731624C>G	GRCh37
NC_000001.9:g.91504212C>G	NCBI36
NG_034120.1:g.143803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370425.8:c.3924G>C MANE Select	ENSP00000359454.3:p.Lys1308Asn
ENST00000370425.7:c.3924G>C	ENSP00000359454.3:p.Lys1308Asn
ENST00000430465.1:c.1559G>C
ENST00000462405.5:n.1809+1678G>C
NM_001017975.4:c.3924G>C	NP_001017975.4:p.Lys1308Asn
XM_006710395.2:c.2157G>C	XP_006710458.1:p.Lys719Asn
XM_011540847.1:c.3921G>C	XP_011539149.1:p.Lys1307Asn
XM_011540848.1:c.3843G>C	XP_011539150.1:p.Lys1281Asn
XM_011540849.1:c.3924G>C	XP_011539151.1:p.Lys1308Asn
XM_011540850.1:c.3924G>C	XP_011539152.1:p.Lys1308Asn
XM_011540851.1:c.3924G>C	XP_011539153.1:p.Lys1308Asn
XM_011540852.1:c.3924G>C	XP_011539154.1:p.Lys1308Asn
XM_011540853.1:c.3792G>C	XP_011539155.1:p.Lys1264Asn
XM_011540854.1:c.3924G>C	XP_011539156.1:p.Lys1308Asn
XM_011540855.1:c.3798G>C	XP_011539157.1:p.Lys1266Asn
XM_011540856.1:c.3883+1678G>C	XP_011539158.1:n.3883+1678G>C
XM_011540857.1:c.3501G>C	XP_011539159.1:p.Lys1167Asn
XM_011540858.1:c.2961G>C	XP_011539160.1:p.Lys987Asn
XM_011540859.1:c.2751G>C	XP_011539161.1:p.Lys917Asn
XM_011540850.2:c.3924G>C	XP_011539152.1:p.Lys1308Asn
XM_011540852.2:c.3924G>C	XP_011539154.1:p.Lys1308Asn
XM_011540855.2:c.3798G>C	XP_011539157.1:p.Lys1266Asn
XM_011540859.2:c.2751G>C	XP_011539161.1:p.Lys917Asn
XM_017000490.1:c.3843G>C	XP_016855979.1:p.Lys1281Asn
XM_017000491.1:c.3792G>C	XP_016855980.1:p.Lys1264Asn
XM_017000492.1:c.2961G>C	XP_016855981.1:p.Lys987Asn
XM_017000493.1:c.2253G>C	XP_016855982.1:p.Lys751Asn
XR_001737008.1:n.3926+1678G>C
XR_001737009.1:n.3840+1678G>C
XR_001737010.1:n.3708+1678G>C
NM_001017975.5:c.3924G>C	NP_001017975.4:p.Lys1308Asn
NM_001017975.6:c.3924G>C MANE Select	NP_001017975.5:p.Lys1308Asn
NR_165455.1:n.3514G>C