Canonical Allele Identifier: CA2637078302

Gene: NF1

Linked Data

• gnomAD v4: 17-31338590-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338590C>A , CM000679.2:g.31338590C>A	GRCh38
NC_000017.10:g.29665608C>A , CM000679.1:g.29665608C>A	GRCh37
NC_000017.9:g.26689734C>A	NCBI36
NG_009018.1:g.248614C>A , LRG_214:g.248614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6802-114C>A	ENSP00000512431.1:n.6802-114C>A
ENST00000684826.1:c.1384-114C>A	ENSP00000509994.1:n.1384-114C>A
ENST00000684998.1:n.2528C>A
ENST00000687027.1:c.976-114C>A	ENSP00000508715.1:n.976-114C>A
ENST00000687863.1:n.3465-114C>A
ENST00000691014.1:c.6850-114C>A	ENSP00000510595.1:n.6850-114C>A
ENST00000693617.1:c.1384-114C>A	ENSP00000510031.1:n.1384-114C>A
ENST00000358273.9:c.6820-114C>A MANE Select	ENSP00000351015.4:n.6820-114C>A
ENST00000356175.7:c.6757-114C>A	ENSP00000348498.3:n.6757-114C>A
ENST00000358273.8:c.6820-114C>A	ENSP00000351015.4:n.6820-114C>A
ENST00000456735.6:c.5755-114C>A	ENSP00000389907.2:n.5755-114C>A
ENST00000471572.6:c.203-114C>A
ENST00000579081.5:c.6956-114C>A	ENSP00000462408.1:n.6956-114C>A
ENST00000581790.5:c.64+710C>A
ENST00000584328.1:n.234-114C>A
NM_000267.3:c.6757-114C>A , LRG_214t1:c.6757-114C>A	NP_000258.1:n.6757-114C>A
NM_001042492.2:c.6820-114C>A , LRG_214t2:c.6820-114C>A	NP_001035957.1:n.6820-114C>A
XM_005257983.1:c.6820-114C>A	XP_005258040.1:n.6820-114C>A
XM_005257984.1:c.6757-114C>A	XP_005258041.1:n.6757-114C>A
XM_006721922.1:c.6850-114C>A	XP_006721985.1:n.6850-114C>A
XM_006721923.2:c.6811-114C>A	XP_006721986.1:n.6811-114C>A
XM_006721924.1:c.6850-114C>A	XP_006721987.1:n.6850-114C>A
XM_006721925.1:c.6787-114C>A	XP_006721988.1:n.6787-114C>A
XM_006721926.2:c.6850-114C>A	XP_006721989.1:n.6850-114C>A
XM_006721927.1:c.6850-114C>A	XP_006721990.1:n.6850-114C>A
XM_011524852.1:c.6847-114C>A	XP_011523154.1:n.6847-114C>A
XM_011524853.1:c.6811-114C>A	XP_011523155.1:n.6811-114C>A
XM_011524854.1:c.6811-114C>A	XP_011523156.1:n.6811-114C>A
XM_011524855.1:c.6811-114C>A	XP_011523157.1:n.6811-114C>A
XM_011524856.1:c.6811-114C>A	XP_011523158.1:n.6811-114C>A
XM_011524857.1:c.6850-114C>A	XP_011523159.1:n.6850-114C>A
NM_001042492.3:c.6820-114C>A MANE Select	NP_001035957.1:n.6820-114C>A