Canonical Allele Identifier: CA2637082124

Gene: NF1

Linked Data

• gnomAD v4: 17-31260581-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260581G>T , CM000679.2:g.31260581G>T	GRCh38
NC_000017.10:g.29587599G>T , CM000679.1:g.29587599G>T	GRCh37
NC_000017.9:g.26611725G>T	NCBI36
NG_009018.1:g.170605G>T , LRG_214:g.170605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.365+66G>T	ENSP00000492721.2:n.365+66G>T
ENST00000696138.1:c.4559+66G>T	ENSP00000512431.1:n.4559+66G>T
ENST00000696140.1:n.683+66G>T
ENST00000696141.1:c.568+66G>T
ENST00000687863.1:n.1222+66G>T
ENST00000691014.1:c.4607+66G>T	ENSP00000510595.1:n.4607+66G>T
ENST00000691649.1:n.1854G>T
ENST00000358273.9:c.4577+66G>T MANE Select	ENSP00000351015.4:n.4577+66G>T
ENST00000356175.7:c.4514+66G>T	ENSP00000348498.3:n.4514+66G>T
ENST00000358273.8:c.4577+66G>T	ENSP00000351015.4:n.4577+66G>T
ENST00000456735.6:c.3512+66G>T	ENSP00000389907.2:n.3512+66G>T
ENST00000466819.5:c.1093+66G>T
ENST00000479614.1:c.1030+66G>T
ENST00000493220.5:n.3050+66G>T
ENST00000579081.5:c.4616+66G>T	ENSP00000462408.1:n.4616+66G>T
NM_000267.3:c.4514+66G>T , LRG_214t1:c.4514+66G>T	NP_000258.1:n.4514+66G>T
NM_001042492.2:c.4577+66G>T , LRG_214t2:c.4577+66G>T	NP_001035957.1:n.4577+66G>T
XM_005257983.1:c.4577+66G>T	XP_005258040.1:n.4577+66G>T
XM_005257984.1:c.4514+66G>T	XP_005258041.1:n.4514+66G>T
XM_006721922.1:c.4607+66G>T	XP_006721985.1:n.4607+66G>T
XM_006721923.2:c.4568+66G>T	XP_006721986.1:n.4568+66G>T
XM_006721924.1:c.4607+66G>T	XP_006721987.1:n.4607+66G>T
XM_006721925.1:c.4544+66G>T	XP_006721988.1:n.4544+66G>T
XM_006721926.2:c.4607+66G>T	XP_006721989.1:n.4607+66G>T
XM_006721927.1:c.4607+66G>T	XP_006721990.1:n.4607+66G>T
XM_006721928.2:c.4607+66G>T	XP_006721991.1:n.4607+66G>T
XM_011524852.1:c.4604+66G>T	XP_011523154.1:n.4604+66G>T
XM_011524853.1:c.4568+66G>T	XP_011523155.1:n.4568+66G>T
XM_011524854.1:c.4568+66G>T	XP_011523156.1:n.4568+66G>T
XM_011524855.1:c.4568+66G>T	XP_011523157.1:n.4568+66G>T
XM_011524856.1:c.4568+66G>T	XP_011523158.1:n.4568+66G>T
XM_011524857.1:c.4607+66G>T	XP_011523159.1:n.4607+66G>T
NM_001042492.3:c.4577+66G>T MANE Select	NP_001035957.1:n.4577+66G>T