Canonical Allele Identifier: CA2255602775

Gene: NF1

Linked Data

• dbSNP Id: rs2069721618
• gnomAD v4: 17-31337951-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337951C>T , CM000679.2:g.31337951C>T	GRCh38
NC_000017.10:g.29664969C>T , CM000679.1:g.29664969C>T	GRCh37
NC_000017.9:g.26689095C>T	NCBI36
NG_009018.1:g.247975C>T , LRG_214:g.247975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6686+71C>T	ENSP00000512431.1:n.6686+71C>T
ENST00000684826.1:c.1268+71C>T	ENSP00000509994.1:n.1268+71C>T
ENST00000684998.1:n.1889C>T
ENST00000687027.1:c.860+71C>T	ENSP00000508715.1:n.860+71C>T
ENST00000687863.1:n.3349+71C>T
ENST00000691014.1:c.6734+71C>T	ENSP00000510595.1:n.6734+71C>T
ENST00000693617.1:c.1268+71C>T	ENSP00000510031.1:n.1268+71C>T
ENST00000358273.9:c.6704+71C>T MANE Select	ENSP00000351015.4:n.6704+71C>T
ENST00000356175.7:c.6641+71C>T	ENSP00000348498.3:n.6641+71C>T
ENST00000358273.8:c.6704+71C>T	ENSP00000351015.4:n.6704+71C>T
ENST00000456735.6:c.5639+71C>T	ENSP00000389907.2:n.5639+71C>T
ENST00000471572.6:c.65-51C>T
ENST00000579081.5:c.6840+71C>T	ENSP00000462408.1:n.6840+71C>T
ENST00000581790.5:c.64+71C>T
ENST00000584328.1:n.118+71C>T
NM_000267.3:c.6641+71C>T , LRG_214t1:c.6641+71C>T	NP_000258.1:n.6641+71C>T
NM_001042492.2:c.6704+71C>T , LRG_214t2:c.6704+71C>T	NP_001035957.1:n.6704+71C>T
XM_005257983.1:c.6704+71C>T	XP_005258040.1:n.6704+71C>T
XM_005257984.1:c.6641+71C>T	XP_005258041.1:n.6641+71C>T
XM_006721922.1:c.6734+71C>T	XP_006721985.1:n.6734+71C>T
XM_006721923.2:c.6695+71C>T	XP_006721986.1:n.6695+71C>T
XM_006721924.1:c.6734+71C>T	XP_006721987.1:n.6734+71C>T
XM_006721925.1:c.6671+71C>T	XP_006721988.1:n.6671+71C>T
XM_006721926.2:c.6734+71C>T	XP_006721989.1:n.6734+71C>T
XM_006721927.1:c.6734+71C>T	XP_006721990.1:n.6734+71C>T
XM_011524852.1:c.6731+71C>T	XP_011523154.1:n.6731+71C>T
XM_011524853.1:c.6695+71C>T	XP_011523155.1:n.6695+71C>T
XM_011524854.1:c.6695+71C>T	XP_011523156.1:n.6695+71C>T
XM_011524855.1:c.6695+71C>T	XP_011523157.1:n.6695+71C>T
XM_011524856.1:c.6695+71C>T	XP_011523158.1:n.6695+71C>T
XM_011524857.1:c.6734+71C>T	XP_011523159.1:n.6734+71C>T
NM_001042492.3:c.6704+71C>T MANE Select	NP_001035957.1:n.6704+71C>T