Canonical Allele Identifier: CA499239449

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29684048T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357030T>G , CM000679.2:g.31357030T>G	GRCh38
NC_000017.10:g.29684048T>G , CM000679.1:g.29684048T>G	GRCh37
NC_000017.9:g.26708174T>G	NCBI36
NG_009018.1:g.267054T>G , LRG_214:g.267054T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7791T>G	ENSP00000512431.1:p.Val2597=
ENST00000684826.1:c.2373T>G	ENSP00000509994.1:p.Val791=
ENST00000687027.1:c.1965T>G	ENSP00000508715.1:p.Val655=
ENST00000687863.1:n.4454T>G
ENST00000689464.1:c.859T>G
ENST00000691014.1:c.7839T>G	ENSP00000510595.1:p.Val2613=
ENST00000693617.1:c.2373T>G	ENSP00000510031.1:p.Val791=
ENST00000358273.9:c.7809T>G MANE Select	ENSP00000351015.4:p.Val2603=
ENST00000356175.7:c.7746T>G	ENSP00000348498.3:p.Val2582=
ENST00000358273.8:c.7809T>G	ENSP00000351015.4:p.Val2603=
ENST00000456735.6:c.6744T>G	ENSP00000389907.2:p.Val2248=
ENST00000471572.6:c.1192T>G
ENST00000577967.1:n.1227T>G
ENST00000579081.5:c.7945T>G	ENSP00000462408.1:n.7945T>G
ENST00000581790.5:c.794T>G
NM_000267.3:c.7746T>G , LRG_214t1:c.7746T>G	NP_000258.1:p.Val2582=
NM_001042492.2:c.7809T>G , LRG_214t2:c.7809T>G	NP_001035957.1:p.Val2603=
XM_005257983.1:c.7809T>G	XP_005258040.1:p.Val2603=
XM_005257984.1:c.7746T>G	XP_005258041.1:p.Val2582=
XM_006721922.1:c.7839T>G	XP_006721985.1:p.Val2613=
XM_006721923.2:c.7800T>G	XP_006721986.1:p.Val2600=
XM_006721924.1:c.7839T>G	XP_006721987.1:p.Val2613=
XM_006721925.1:c.7776T>G	XP_006721988.1:p.Val2592=
XM_006721926.2:c.7839T>G	XP_006721989.1:p.Val2613=
XM_006721927.1:c.7839T>G	XP_006721990.1:p.Val2613=
XM_011524852.1:c.7836T>G	XP_011523154.1:p.Val2612=
XM_011524853.1:c.7800T>G	XP_011523155.1:p.Val2600=
XM_011524854.1:c.7800T>G	XP_011523156.1:p.Val2600=
XM_011524855.1:c.7800T>G	XP_011523157.1:p.Val2600=
XM_011524856.1:c.7800T>G	XP_011523158.1:p.Val2600=
XM_011524857.1:c.7716T>G	XP_011523159.1:p.Val2572=
NM_001042492.3:c.7809T>G MANE Select	NP_001035957.1:p.Val2603=