Canonical Allele Identifier: CA2637086152

Gene: NF1

Linked Data

• gnomAD v4: 17-31357175-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357175G>T , CM000679.2:g.31357175G>T	GRCh38
NC_000017.10:g.29684193G>T , CM000679.1:g.29684193G>T	GRCh37
NC_000017.9:g.26708319G>T	NCBI36
NG_009018.1:g.267199G>T , LRG_214:g.267199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7851+85G>T	ENSP00000512431.1:n.7851+85G>T
ENST00000684826.1:c.2433+85G>T	ENSP00000509994.1:n.2433+85G>T
ENST00000687027.1:c.2025+85G>T	ENSP00000508715.1:n.2025+85G>T
ENST00000687863.1:n.4514+85G>T
ENST00000689464.1:c.919+85G>T
ENST00000691014.1:c.7899+85G>T	ENSP00000510595.1:n.7899+85G>T
ENST00000693617.1:c.2433+85G>T	ENSP00000510031.1:n.2433+85G>T
ENST00000358273.9:c.7869+85G>T MANE Select	ENSP00000351015.4:n.7869+85G>T
ENST00000356175.7:c.7806+85G>T	ENSP00000348498.3:n.7806+85G>T
ENST00000358273.8:c.7869+85G>T	ENSP00000351015.4:n.7869+85G>T
ENST00000456735.6:c.6804+85G>T	ENSP00000389907.2:n.6804+85G>T
ENST00000471572.6:c.1252+85G>T
ENST00000577967.1:n.1372G>T
ENST00000579081.5:c.8005+85G>T	ENSP00000462408.1:n.8005+85G>T
ENST00000581790.5:c.854+85G>T
NM_000267.3:c.7806+85G>T , LRG_214t1:c.7806+85G>T	NP_000258.1:n.7806+85G>T
NM_001042492.2:c.7869+85G>T , LRG_214t2:c.7869+85G>T	NP_001035957.1:n.7869+85G>T
XM_005257983.1:c.7869+85G>T	XP_005258040.1:n.7869+85G>T
XM_005257984.1:c.7806+85G>T	XP_005258041.1:n.7806+85G>T
XM_006721922.1:c.7899+85G>T	XP_006721985.1:n.7899+85G>T
XM_006721923.2:c.7860+85G>T	XP_006721986.1:n.7860+85G>T
XM_006721924.1:c.7899+85G>T	XP_006721987.1:n.7899+85G>T
XM_006721925.1:c.7836+85G>T	XP_006721988.1:n.7836+85G>T
XM_006721926.2:c.7899+85G>T	XP_006721989.1:n.7899+85G>T
XM_006721927.1:c.7899+85G>T	XP_006721990.1:n.7899+85G>T
XM_011524852.1:c.7896+85G>T	XP_011523154.1:n.7896+85G>T
XM_011524853.1:c.7860+85G>T	XP_011523155.1:n.7860+85G>T
XM_011524854.1:c.7860+85G>T	XP_011523156.1:n.7860+85G>T
XM_011524855.1:c.7860+85G>T	XP_011523157.1:n.7860+85G>T
XM_011524856.1:c.7860+85G>T	XP_011523158.1:n.7860+85G>T
XM_011524857.1:c.7776+85G>T	XP_011523159.1:n.7776+85G>T
NM_001042492.3:c.7869+85G>T MANE Select	NP_001035957.1:n.7869+85G>T