Canonical Allele Identifier: CA8487119

Gene: NF1

Linked Data

• ClinVar Variation Id: 231988
• ClinVar RCV Id: RCV000219524 ; RCV000469644 ; RCV001030577 ; RCV001567513 ; RCV002338691
• dbSNP Id: rs770558820
• ExAC: 17:29652944 A / G
• gnomAD v2: 17-29652944-A-G
• gnomAD v3: 17-31325926-A-G
• gnomAD v4: 17-31325926-A-G
• COSMIC: COSM5749154 ; COSM5749155
• MyVariant Identifiers: chr17:g.29652944A>G (hg19) ; chr17:g.31325926A>G (hg38)
• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325926A>G , CM000679.2:g.31325926A>G	GRCh38
NC_000017.10:g.29652944A>G , CM000679.1:g.29652944A>G	GRCh37
NC_000017.9:g.26677070A>G	NCBI36
NG_009018.1:g.235950A>G , LRG_214:g.235950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1130A>G	ENSP00000492721.2:n.1130A>G
ENST00000696138.1:c.4924A>G	ENSP00000512431.1:p.Thr1642Ala
ENST00000684826.1:c.-495A>G	ENSP00000509994.1:n.-495A>G
ENST00000687027.1:c.-562A>G	ENSP00000508715.1:n.-562A>G
ENST00000687863.1:n.1587A>G
ENST00000691014.1:c.4972A>G	ENSP00000510595.1:p.Thr1658Ala
ENST00000693617.1:c.-495A>G	ENSP00000510031.1:n.-495A>G
ENST00000358273.9:c.4942A>G MANE Select	ENSP00000351015.4:p.Thr1648Ala
ENST00000356175.7:c.4879A>G	ENSP00000348498.3:p.Thr1627Ala
ENST00000358273.8:c.4942A>G	ENSP00000351015.4:p.Thr1648Ala
ENST00000456735.6:c.3877A>G	ENSP00000389907.2:p.Thr1293Ala
ENST00000493220.5:n.3415A>G
ENST00000579081.5:c.5078A>G	ENSP00000462408.1:n.5078A>G
ENST00000581113.6:n.259A>G
NM_000267.3:c.4879A>G , LRG_214t1:c.4879A>G	NP_000258.1:p.Thr1627Ala
NM_001042492.2:c.4942A>G , LRG_214t2:c.4942A>G	NP_001035957.1:p.Thr1648Ala
XM_005257983.1:c.4942A>G	XP_005258040.1:p.Thr1648Ala
XM_005257984.1:c.4879A>G	XP_005258041.1:p.Thr1627Ala
XM_006721922.1:c.4972A>G	XP_006721985.1:p.Thr1658Ala
XM_006721923.2:c.4933A>G	XP_006721986.1:p.Thr1645Ala
XM_006721924.1:c.4972A>G	XP_006721987.1:p.Thr1658Ala
XM_006721925.1:c.4909A>G	XP_006721988.1:p.Thr1637Ala
XM_006721926.2:c.4972A>G	XP_006721989.1:p.Thr1658Ala
XM_006721927.1:c.4972A>G	XP_006721990.1:p.Thr1658Ala
XM_011524852.1:c.4969A>G	XP_011523154.1:p.Thr1657Ala
XM_011524853.1:c.4933A>G	XP_011523155.1:p.Thr1645Ala
XM_011524854.1:c.4933A>G	XP_011523156.1:p.Thr1645Ala
XM_011524855.1:c.4933A>G	XP_011523157.1:p.Thr1645Ala
XM_011524856.1:c.4933A>G	XP_011523158.1:p.Thr1645Ala
XM_011524857.1:c.4972A>G	XP_011523159.1:p.Thr1658Ala
NM_001042492.3:c.4942A>G MANE Select	NP_001035957.1:p.Thr1648Ala