Canonical Allele Identifier: CA2637085127

Gene: NF1

Linked Data

• gnomAD v4: 17-31325720-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325720T>C , CM000679.2:g.31325720T>C	GRCh38
NC_000017.10:g.29652738T>C , CM000679.1:g.29652738T>C	GRCh37
NC_000017.9:g.26676864T>C	NCBI36
NG_009018.1:g.235744T>C , LRG_214:g.235744T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.1024-100T>C	ENSP00000492721.2:n.1024-100T>C
ENST00000696138.1:c.4818-100T>C	ENSP00000512431.1:n.4818-100T>C
ENST00000684826.1:c.-601-100T>C	ENSP00000509994.1:n.-601-100T>C
ENST00000687027.1:c.-668-100T>C	ENSP00000508715.1:n.-668-100T>C
ENST00000687863.1:n.1481-100T>C
ENST00000691014.1:c.4866-100T>C	ENSP00000510595.1:n.4866-100T>C
ENST00000693617.1:c.-601-100T>C	ENSP00000510031.1:n.-601-100T>C
ENST00000358273.9:c.4836-100T>C MANE Select	ENSP00000351015.4:n.4836-100T>C
ENST00000356175.7:c.4773-100T>C	ENSP00000348498.3:n.4773-100T>C
ENST00000358273.8:c.4836-100T>C	ENSP00000351015.4:n.4836-100T>C
ENST00000456735.6:c.3771-100T>C	ENSP00000389907.2:n.3771-100T>C
ENST00000493220.5:n.3309-100T>C
ENST00000579081.5:c.4972-100T>C	ENSP00000462408.1:n.4972-100T>C
ENST00000581113.6:n.153-100T>C
NM_000267.3:c.4773-100T>C , LRG_214t1:c.4773-100T>C	NP_000258.1:n.4773-100T>C
NM_001042492.2:c.4836-100T>C , LRG_214t2:c.4836-100T>C	NP_001035957.1:n.4836-100T>C
XM_005257983.1:c.4836-100T>C	XP_005258040.1:n.4836-100T>C
XM_005257984.1:c.4773-100T>C	XP_005258041.1:n.4773-100T>C
XM_006721922.1:c.4866-100T>C	XP_006721985.1:n.4866-100T>C
XM_006721923.2:c.4827-100T>C	XP_006721986.1:n.4827-100T>C
XM_006721924.1:c.4866-100T>C	XP_006721987.1:n.4866-100T>C
XM_006721925.1:c.4803-100T>C	XP_006721988.1:n.4803-100T>C
XM_006721926.2:c.4866-100T>C	XP_006721989.1:n.4866-100T>C
XM_006721927.1:c.4866-100T>C	XP_006721990.1:n.4866-100T>C
XM_011524852.1:c.4863-100T>C	XP_011523154.1:n.4863-100T>C
XM_011524853.1:c.4827-100T>C	XP_011523155.1:n.4827-100T>C
XM_011524854.1:c.4827-100T>C	XP_011523156.1:n.4827-100T>C
XM_011524855.1:c.4827-100T>C	XP_011523157.1:n.4827-100T>C
XM_011524856.1:c.4827-100T>C	XP_011523158.1:n.4827-100T>C
XM_011524857.1:c.4866-100T>C	XP_011523159.1:n.4866-100T>C
NM_001042492.3:c.4836-100T>C MANE Select	NP_001035957.1:n.4836-100T>C