Canonical Allele Identifier: CA499340772

Gene: NF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357319T>C , CM000679.2:g.31357319T>C	GRCh38
NC_000017.10:g.29684337T>C , CM000679.1:g.29684337T>C	GRCh37
NC_000017.9:g.26708463T>C	NCBI36
NG_009018.1:g.267343T>C , LRG_214:g.267343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7902T>C	ENSP00000512431.1:p.Tyr2634=
ENST00000684826.1:c.2484T>C	ENSP00000509994.1:p.Tyr828=
ENST00000687027.1:c.2076T>C	ENSP00000508715.1:p.Tyr692=
ENST00000687863.1:n.4565T>C
ENST00000689464.1:c.970T>C
ENST00000691014.1:c.7950T>C	ENSP00000510595.1:p.Tyr2650=
ENST00000693617.1:c.2484T>C	ENSP00000510031.1:p.Tyr828=
ENST00000358273.9:c.7920T>C MANE Select	ENSP00000351015.4:p.Tyr2640=
ENST00000356175.7:c.7857T>C	ENSP00000348498.3:p.Tyr2619=
ENST00000358273.8:c.7920T>C	ENSP00000351015.4:p.Tyr2640=
ENST00000456735.6:c.6855T>C	ENSP00000389907.2:p.Tyr2285=
ENST00000471572.6:c.1303T>C
ENST00000577967.1:n.1516T>C
ENST00000579081.5:c.8056T>C	ENSP00000462408.1:n.8056T>C
ENST00000581790.5:c.905T>C
NM_000267.3:c.7857T>C , LRG_214t1:c.7857T>C	NP_000258.1:p.Tyr2619=
NM_001042492.2:c.7920T>C , LRG_214t2:c.7920T>C	NP_001035957.1:p.Tyr2640=
XM_005257983.1:c.7920T>C	XP_005258040.1:p.Tyr2640=
XM_005257984.1:c.7857T>C	XP_005258041.1:p.Tyr2619=
XM_006721922.1:c.7950T>C	XP_006721985.1:p.Tyr2650=
XM_006721923.2:c.7911T>C	XP_006721986.1:p.Tyr2637=
XM_006721924.1:c.7950T>C	XP_006721987.1:p.Tyr2650=
XM_006721925.1:c.7887T>C	XP_006721988.1:p.Tyr2629=
XM_006721926.2:c.7950T>C	XP_006721989.1:p.Tyr2650=
XM_006721927.1:c.7950T>C	XP_006721990.1:p.Tyr2650=
XM_011524852.1:c.7947T>C	XP_011523154.1:p.Tyr2649=
XM_011524853.1:c.7911T>C	XP_011523155.1:p.Tyr2637=
XM_011524854.1:c.7911T>C	XP_011523156.1:p.Tyr2637=
XM_011524855.1:c.7911T>C	XP_011523157.1:p.Tyr2637=
XM_011524856.1:c.7911T>C	XP_011523158.1:p.Tyr2637=
XM_011524857.1:c.7827T>C	XP_011523159.1:p.Tyr2609=
NM_001042492.3:c.7920T>C MANE Select	NP_001035957.1:p.Tyr2640=