Canonical Allele Identifier: CA499234323

Gene: NF1

Linked Data

• gnomAD v4: 17-31338709-T-G
• MyVariant Identifiers: chr17:g.29665727T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338709T>G , CM000679.2:g.31338709T>G	GRCh38
NC_000017.10:g.29665727T>G , CM000679.1:g.29665727T>G	GRCh37
NC_000017.9:g.26689853T>G	NCBI36
NG_009018.1:g.248733T>G , LRG_214:g.248733T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6807T>G	ENSP00000512431.1:p.Leu2269=
ENST00000684826.1:c.1389T>G	ENSP00000509994.1:p.Leu463=
ENST00000684998.1:n.2647T>G
ENST00000687027.1:c.981T>G	ENSP00000508715.1:p.Leu327=
ENST00000687863.1:n.3470T>G
ENST00000691014.1:c.6855T>G	ENSP00000510595.1:p.Leu2285=
ENST00000693617.1:c.1389T>G	ENSP00000510031.1:p.Leu463=
ENST00000358273.9:c.6825T>G MANE Select	ENSP00000351015.4:p.Leu2275=
ENST00000356175.7:c.6762T>G	ENSP00000348498.3:p.Leu2254=
ENST00000358273.8:c.6825T>G	ENSP00000351015.4:p.Leu2275=
ENST00000456735.6:c.5760T>G	ENSP00000389907.2:p.Leu1920=
ENST00000471572.6:c.208T>G
ENST00000579081.5:c.6961T>G	ENSP00000462408.1:n.6961T>G
ENST00000581790.5:c.64+829T>G
ENST00000584328.1:n.239T>G
NM_000267.3:c.6762T>G , LRG_214t1:c.6762T>G	NP_000258.1:p.Leu2254=
NM_001042492.2:c.6825T>G , LRG_214t2:c.6825T>G	NP_001035957.1:p.Leu2275=
XM_005257983.1:c.6825T>G	XP_005258040.1:p.Leu2275=
XM_005257984.1:c.6762T>G	XP_005258041.1:p.Leu2254=
XM_006721922.1:c.6855T>G	XP_006721985.1:p.Leu2285=
XM_006721923.2:c.6816T>G	XP_006721986.1:p.Leu2272=
XM_006721924.1:c.6855T>G	XP_006721987.1:p.Leu2285=
XM_006721925.1:c.6792T>G	XP_006721988.1:p.Leu2264=
XM_006721926.2:c.6855T>G	XP_006721989.1:p.Leu2285=
XM_006721927.1:c.6855T>G	XP_006721990.1:p.Leu2285=
XM_011524852.1:c.6852T>G	XP_011523154.1:p.Leu2284=
XM_011524853.1:c.6816T>G	XP_011523155.1:p.Leu2272=
XM_011524854.1:c.6816T>G	XP_011523156.1:p.Leu2272=
XM_011524855.1:c.6816T>G	XP_011523157.1:p.Leu2272=
XM_011524856.1:c.6816T>G	XP_011523158.1:p.Leu2272=
XM_011524857.1:c.6855T>G	XP_011523159.1:p.Leu2285=
NM_001042492.3:c.6825T>G MANE Select	NP_001035957.1:p.Leu2275=