Canonical Allele Identifier: CA399203406

Gene: NF1

Linked Data

• ClinVar Variation Id: 811226
• ClinVar RCV Id: RCV001000953 ; RCV003467561
• dbSNP Id: rs1597866846
• COSMIC: COSM5023015
• MyVariant Identifiers: chr17:g.29684312A>G (hg19) ; chr17:g.31357294A>G (hg38)
• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357294A>G , CM000679.2:g.31357294A>G	GRCh38
NC_000017.10:g.29684312A>G , CM000679.1:g.29684312A>G	GRCh37
NC_000017.9:g.26708438A>G	NCBI36
NG_009018.1:g.267318A>G , LRG_214:g.267318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7877A>G	ENSP00000512431.1:p.Asp2626Gly
ENST00000684826.1:c.2459A>G	ENSP00000509994.1:p.Asp820Gly
ENST00000687027.1:c.2051A>G	ENSP00000508715.1:p.Asp684Gly
ENST00000687863.1:n.4540A>G
ENST00000689464.1:c.945A>G
ENST00000691014.1:c.7925A>G	ENSP00000510595.1:p.Asp2642Gly
ENST00000693617.1:c.2459A>G	ENSP00000510031.1:p.Asp820Gly
ENST00000358273.9:c.7895A>G MANE Select	ENSP00000351015.4:p.Asp2632Gly
ENST00000356175.7:c.7832A>G	ENSP00000348498.3:p.Asp2611Gly
ENST00000358273.8:c.7895A>G	ENSP00000351015.4:p.Asp2632Gly
ENST00000456735.6:c.6830A>G	ENSP00000389907.2:p.Asp2277Gly
ENST00000471572.6:c.1278A>G
ENST00000577967.1:n.1491A>G
ENST00000579081.5:c.8031A>G	ENSP00000462408.1:n.8031A>G
ENST00000581790.5:c.880A>G
NM_000267.3:c.7832A>G , LRG_214t1:c.7832A>G	NP_000258.1:p.Asp2611Gly
NM_001042492.2:c.7895A>G , LRG_214t2:c.7895A>G	NP_001035957.1:p.Asp2632Gly
XM_005257983.1:c.7895A>G	XP_005258040.1:p.Asp2632Gly
XM_005257984.1:c.7832A>G	XP_005258041.1:p.Asp2611Gly
XM_006721922.1:c.7925A>G	XP_006721985.1:p.Asp2642Gly
XM_006721923.2:c.7886A>G	XP_006721986.1:p.Asp2629Gly
XM_006721924.1:c.7925A>G	XP_006721987.1:p.Asp2642Gly
XM_006721925.1:c.7862A>G	XP_006721988.1:p.Asp2621Gly
XM_006721926.2:c.7925A>G	XP_006721989.1:p.Asp2642Gly
XM_006721927.1:c.7925A>G	XP_006721990.1:p.Asp2642Gly
XM_011524852.1:c.7922A>G	XP_011523154.1:p.Asp2641Gly
XM_011524853.1:c.7886A>G	XP_011523155.1:p.Asp2629Gly
XM_011524854.1:c.7886A>G	XP_011523156.1:p.Asp2629Gly
XM_011524855.1:c.7886A>G	XP_011523157.1:p.Asp2629Gly
XM_011524856.1:c.7886A>G	XP_011523158.1:p.Asp2629Gly
XM_011524857.1:c.7802A>G	XP_011523159.1:p.Asp2601Gly
NM_001042492.3:c.7895A>G MANE Select	NP_001035957.1:p.Asp2632Gly