Canonical Allele Identifier: CA399203513

Gene: NF1

Linked Data

• ClinVar Variation Id: 2452317
• ClinVar RCV Id: RCV003172411 ; RCV003598160
• dbSNP Id: rs1487025591
• gnomAD v3: 17-31357342-T-C
• gnomAD v4: 17-31357342-T-C
• MyVariant Identifiers: chr17:g.29684360T>C (hg19) ; chr17:g.31357342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357342T>C , CM000679.2:g.31357342T>C	GRCh38
NC_000017.10:g.29684360T>C , CM000679.1:g.29684360T>C	GRCh37
NC_000017.9:g.26708486T>C	NCBI36
NG_009018.1:g.267366T>C , LRG_214:g.267366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7925T>C	ENSP00000512431.1:p.Val2642Ala
ENST00000684826.1:c.2507T>C	ENSP00000509994.1:p.Val836Ala
ENST00000687027.1:c.2099T>C	ENSP00000508715.1:p.Val700Ala
ENST00000687863.1:n.4588T>C
ENST00000689464.1:c.993T>C
ENST00000691014.1:c.7973T>C	ENSP00000510595.1:p.Val2658Ala
ENST00000693617.1:c.2507T>C	ENSP00000510031.1:p.Val836Ala
ENST00000358273.9:c.7943T>C MANE Select	ENSP00000351015.4:p.Val2648Ala
ENST00000356175.7:c.7880T>C	ENSP00000348498.3:p.Val2627Ala
ENST00000358273.8:c.7943T>C	ENSP00000351015.4:p.Val2648Ala
ENST00000456735.6:c.6878T>C	ENSP00000389907.2:p.Val2293Ala
ENST00000471572.6:c.1326T>C
ENST00000577967.1:n.1539T>C
ENST00000579081.5:c.8079T>C	ENSP00000462408.1:n.8079T>C
ENST00000581790.5:c.928T>C
NM_000267.3:c.7880T>C , LRG_214t1:c.7880T>C	NP_000258.1:p.Val2627Ala
NM_001042492.2:c.7943T>C , LRG_214t2:c.7943T>C	NP_001035957.1:p.Val2648Ala
XM_005257983.1:c.7943T>C	XP_005258040.1:p.Val2648Ala
XM_005257984.1:c.7880T>C	XP_005258041.1:p.Val2627Ala
XM_006721922.1:c.7973T>C	XP_006721985.1:p.Val2658Ala
XM_006721923.2:c.7934T>C	XP_006721986.1:p.Val2645Ala
XM_006721924.1:c.7973T>C	XP_006721987.1:p.Val2658Ala
XM_006721925.1:c.7910T>C	XP_006721988.1:p.Val2637Ala
XM_006721926.2:c.7973T>C	XP_006721989.1:p.Val2658Ala
XM_006721927.1:c.7973T>C	XP_006721990.1:p.Val2658Ala
XM_011524852.1:c.7970T>C	XP_011523154.1:p.Val2657Ala
XM_011524853.1:c.7934T>C	XP_011523155.1:p.Val2645Ala
XM_011524854.1:c.7934T>C	XP_011523156.1:p.Val2645Ala
XM_011524855.1:c.7934T>C	XP_011523157.1:p.Val2645Ala
XM_011524856.1:c.7934T>C	XP_011523158.1:p.Val2645Ala
XM_011524857.1:c.7850T>C	XP_011523159.1:p.Val2617Ala
NM_001042492.3:c.7943T>C MANE Select	NP_001035957.1:p.Val2648Ala