Canonical Allele Identifier: CA399203497

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29684353G>T (hg19) ; chr17:g.31357335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357335G>T , CM000679.2:g.31357335G>T	GRCh38
NC_000017.10:g.29684353G>T , CM000679.1:g.29684353G>T	GRCh37
NC_000017.9:g.26708479G>T	NCBI36
NG_009018.1:g.267359G>T , LRG_214:g.267359G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7918G>T	ENSP00000512431.1:p.Ala2640Ser
ENST00000684826.1:c.2500G>T	ENSP00000509994.1:p.Ala834Ser
ENST00000687027.1:c.2092G>T	ENSP00000508715.1:p.Ala698Ser
ENST00000687863.1:n.4581G>T
ENST00000689464.1:c.986G>T
ENST00000691014.1:c.7966G>T	ENSP00000510595.1:p.Ala2656Ser
ENST00000693617.1:c.2500G>T	ENSP00000510031.1:p.Ala834Ser
ENST00000358273.9:c.7936G>T MANE Select	ENSP00000351015.4:p.Ala2646Ser
ENST00000356175.7:c.7873G>T	ENSP00000348498.3:p.Ala2625Ser
ENST00000358273.8:c.7936G>T	ENSP00000351015.4:p.Ala2646Ser
ENST00000456735.6:c.6871G>T	ENSP00000389907.2:p.Ala2291Ser
ENST00000471572.6:c.1319G>T
ENST00000577967.1:n.1532G>T
ENST00000579081.5:c.8072G>T	ENSP00000462408.1:n.8072G>T
ENST00000581790.5:c.921G>T
NM_000267.3:c.7873G>T , LRG_214t1:c.7873G>T	NP_000258.1:p.Ala2625Ser
NM_001042492.2:c.7936G>T , LRG_214t2:c.7936G>T	NP_001035957.1:p.Ala2646Ser
XM_005257983.1:c.7936G>T	XP_005258040.1:p.Ala2646Ser
XM_005257984.1:c.7873G>T	XP_005258041.1:p.Ala2625Ser
XM_006721922.1:c.7966G>T	XP_006721985.1:p.Ala2656Ser
XM_006721923.2:c.7927G>T	XP_006721986.1:p.Ala2643Ser
XM_006721924.1:c.7966G>T	XP_006721987.1:p.Ala2656Ser
XM_006721925.1:c.7903G>T	XP_006721988.1:p.Ala2635Ser
XM_006721926.2:c.7966G>T	XP_006721989.1:p.Ala2656Ser
XM_006721927.1:c.7966G>T	XP_006721990.1:p.Ala2656Ser
XM_011524852.1:c.7963G>T	XP_011523154.1:p.Ala2655Ser
XM_011524853.1:c.7927G>T	XP_011523155.1:p.Ala2643Ser
XM_011524854.1:c.7927G>T	XP_011523156.1:p.Ala2643Ser
XM_011524855.1:c.7927G>T	XP_011523157.1:p.Ala2643Ser
XM_011524856.1:c.7927G>T	XP_011523158.1:p.Ala2643Ser
XM_011524857.1:c.7843G>T	XP_011523159.1:p.Ala2615Ser
NM_001042492.3:c.7936G>T MANE Select	NP_001035957.1:p.Ala2646Ser