Canonical Allele Identifier: CA398609772

Gene: FLII

Linked Data

• ClinVar Variation Id: 3026840
• ClinVar RCV Id: RCV003887233
• MyVariant Identifiers: chr17:g.18149113C>A (hg19) ; chr17:g.18245799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18245799C>A , CM000679.2:g.18245799C>A	GRCh38
NC_000017.10:g.18149113C>A , CM000679.1:g.18149113C>A	GRCh37
NC_000017.9:g.18089838C>A	NCBI36
NG_023243.1:g.17943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327031.9:c.3448G>T MANE Select	ENSP00000324573.4:p.Ala1150Ser
ENST00000327031.8:c.3448G>T	ENSP00000324573.4:p.Ala1150Ser
ENST00000465046.1:n.210G>T
ENST00000474265.5:n.334G>T
ENST00000487369.5:n.125G>T
ENST00000487693.5:n.318G>T
ENST00000493401.1:n.286+39G>T
ENST00000493600.6:n.303G>T
ENST00000545457.6:c.3283G>T	ENSP00000438536.2:p.Ala1095Ser
ENST00000577398.6:c.181G>T	ENSP00000468045.1:p.Ala61Ser
ENST00000577485.1:c.325G>T	ENSP00000463675.1:p.Ala109Ser
ENST00000578101.5:c.*3399G>T	ENSP00000462293.1:n.*3399G>T
ENST00000578558.5:c.1932-554G>T	ENSP00000462314.1:n.1932-554G>T
ENST00000579294.5:c.3415G>T	ENSP00000463534.1:p.Ala1139Ser
ENST00000581858.5:c.35+135G>T
NM_001256264.1:c.3415G>T	NP_001243193.1:p.Ala1139Ser
NM_001256265.1:c.3283G>T	NP_001243194.1:p.Ala1095Ser
NM_002018.3:c.3448G>T	NP_002009.1:p.Ala1150Ser
XM_005256555.2:c.3448G>T	XP_005256612.1:p.Ala1150Ser
XM_005256556.2:c.3445G>T	XP_005256613.1:p.Ala1149Ser
XM_005256558.1:c.3445G>T	XP_005256615.1:p.Ala1149Ser
XM_005256555.4:c.3448G>T	XP_005256612.1:p.Ala1150Ser
XM_005256556.4:c.3445G>T	XP_005256613.1:p.Ala1149Ser
XM_005256558.3:c.3445G>T	XP_005256615.1:p.Ala1149Ser
NM_002018.4:c.3448G>T MANE Select	NP_002009.1:p.Ala1150Ser
NM_001256264.2:c.3415G>T	NP_001243193.1:p.Ala1139Ser
NM_001256265.2:c.3283G>T	NP_001243194.1:p.Ala1095Ser