Canonical Allele Identifier: CA399018755

Gene: NF1

Linked Data

• ClinVar Variation Id: 842594
• ClinVar RCV Id: RCV001045036
• dbSNP Id: rs1597866802
• MyVariant Identifiers: chr17:g.29684287G>C (hg19) ; chr17:g.31357269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357269G>C , CM000679.2:g.31357269G>C	GRCh38
NC_000017.10:g.29684287G>C , CM000679.1:g.29684287G>C	GRCh37
NC_000017.9:g.26708413G>C	NCBI36
NG_009018.1:g.267293G>C , LRG_214:g.267293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7852G>C	ENSP00000512431.1:p.Ala2618Pro
ENST00000684826.1:c.2434G>C	ENSP00000509994.1:p.Ala812Pro
ENST00000687027.1:c.2026G>C	ENSP00000508715.1:p.Ala676Pro
ENST00000687863.1:n.4515G>C
ENST00000689464.1:c.920G>C
ENST00000691014.1:c.7900G>C	ENSP00000510595.1:p.Ala2634Pro
ENST00000693617.1:c.2434G>C	ENSP00000510031.1:p.Ala812Pro
ENST00000358273.9:c.7870G>C MANE Select	ENSP00000351015.4:p.Ala2624Pro
ENST00000356175.7:c.7807G>C	ENSP00000348498.3:p.Ala2603Pro
ENST00000358273.8:c.7870G>C	ENSP00000351015.4:p.Ala2624Pro
ENST00000456735.6:c.6805G>C	ENSP00000389907.2:p.Ala2269Pro
ENST00000471572.6:c.1253G>C
ENST00000577967.1:n.1466G>C
ENST00000579081.5:c.8006G>C	ENSP00000462408.1:n.8006G>C
ENST00000581790.5:c.855G>C
NM_000267.3:c.7807G>C , LRG_214t1:c.7807G>C	NP_000258.1:p.Ala2603Pro
NM_001042492.2:c.7870G>C , LRG_214t2:c.7870G>C	NP_001035957.1:p.Ala2624Pro
XM_005257983.1:c.7870G>C	XP_005258040.1:p.Ala2624Pro
XM_005257984.1:c.7807G>C	XP_005258041.1:p.Ala2603Pro
XM_006721922.1:c.7900G>C	XP_006721985.1:p.Ala2634Pro
XM_006721923.2:c.7861G>C	XP_006721986.1:p.Ala2621Pro
XM_006721924.1:c.7900G>C	XP_006721987.1:p.Ala2634Pro
XM_006721925.1:c.7837G>C	XP_006721988.1:p.Ala2613Pro
XM_006721926.2:c.7900G>C	XP_006721989.1:p.Ala2634Pro
XM_006721927.1:c.7900G>C	XP_006721990.1:p.Ala2634Pro
XM_011524852.1:c.7897G>C	XP_011523154.1:p.Ala2633Pro
XM_011524853.1:c.7861G>C	XP_011523155.1:p.Ala2621Pro
XM_011524854.1:c.7861G>C	XP_011523156.1:p.Ala2621Pro
XM_011524855.1:c.7861G>C	XP_011523157.1:p.Ala2621Pro
XM_011524856.1:c.7861G>C	XP_011523158.1:p.Ala2621Pro
XM_011524857.1:c.7777G>C	XP_011523159.1:p.Ala2593Pro
NM_001042492.3:c.7870G>C MANE Select	NP_001035957.1:p.Ala2624Pro