Canonical Allele Identifier: CA399015628

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670083A>C (hg19) ; chr17:g.31343065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343065A>C , CM000679.2:g.31343065A>C	GRCh38
NC_000017.10:g.29670083A>C , CM000679.1:g.29670083A>C	GRCh37
NC_000017.9:g.26694209A>C	NCBI36
NG_009018.1:g.253089A>C , LRG_214:g.253089A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7101A>C	ENSP00000512431.1:p.Gln2367His
ENST00000684826.1:c.1683A>C	ENSP00000509994.1:p.Gln561His
ENST00000687027.1:c.1275A>C	ENSP00000508715.1:p.Gln425His
ENST00000687863.1:n.3764A>C
ENST00000689464.1:c.58A>C
ENST00000691014.1:c.7149A>C	ENSP00000510595.1:p.Gln2383His
ENST00000693617.1:c.1683A>C	ENSP00000510031.1:p.Gln561His
ENST00000358273.9:c.7119A>C MANE Select	ENSP00000351015.4:p.Gln2373His
ENST00000356175.7:c.7056A>C	ENSP00000348498.3:p.Gln2352His
ENST00000358273.8:c.7119A>C	ENSP00000351015.4:p.Gln2373His
ENST00000456735.6:c.6054A>C	ENSP00000389907.2:p.Gln2018His
ENST00000471572.6:c.502A>C
ENST00000579081.5:c.7255A>C	ENSP00000462408.1:n.7255A>C
ENST00000581790.5:c.262A>C
ENST00000582892.1:n.361A>C
ENST00000584328.1:n.533A>C
NM_000267.3:c.7056A>C , LRG_214t1:c.7056A>C	NP_000258.1:p.Gln2352His
NM_001042492.2:c.7119A>C , LRG_214t2:c.7119A>C	NP_001035957.1:p.Gln2373His
XM_005257983.1:c.7119A>C	XP_005258040.1:p.Gln2373His
XM_005257984.1:c.7056A>C	XP_005258041.1:p.Gln2352His
XM_006721922.1:c.7149A>C	XP_006721985.1:p.Gln2383His
XM_006721923.2:c.7110A>C	XP_006721986.1:p.Gln2370His
XM_006721924.1:c.7149A>C	XP_006721987.1:p.Gln2383His
XM_006721925.1:c.7086A>C	XP_006721988.1:p.Gln2362His
XM_006721926.2:c.7149A>C	XP_006721989.1:p.Gln2383His
XM_006721927.1:c.7149A>C	XP_006721990.1:p.Gln2383His
XM_011524852.1:c.7146A>C	XP_011523154.1:p.Gln2382His
XM_011524853.1:c.7110A>C	XP_011523155.1:p.Gln2370His
XM_011524854.1:c.7110A>C	XP_011523156.1:p.Gln2370His
XM_011524855.1:c.7110A>C	XP_011523157.1:p.Gln2370His
XM_011524856.1:c.7110A>C	XP_011523158.1:p.Gln2370His
XM_011524857.1:c.7149A>C	XP_011523159.1:p.Gln2383His
NM_001042492.3:c.7119A>C MANE Select	NP_001035957.1:p.Gln2373His