Canonical Allele Identifier: CA2733482629

Gene: NF1

Linked Data

• dbSNP Id: rs2143138555

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31094987G>T , CM000679.2:g.31094987G>T	GRCh38
NC_000017.10:g.29422005G>T , CM000679.1:g.29422005G>T	GRCh37
NC_000017.9:g.26446131G>T	NCBI36
NG_009018.1:g.5011G>T , LRG_214:g.5011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.-323G>T	ENSP00000512431.1:n.-323G>T
ENST00000691014.1:c.-323G>T	ENSP00000510595.1:n.-323G>T
ENST00000358273.9:c.-323G>T MANE Select	ENSP00000351015.4:n.-323G>T
ENST00000356175.7:c.-323G>T	ENSP00000348498.3:n.-323G>T
ENST00000358273.8:c.-323G>T	ENSP00000351015.4:n.-323G>T
ENST00000431387.8:c.-323G>T	ENSP00000412921.4:n.-323G>T
ENST00000487476.5:n.61G>T
NM_000267.3:c.-323G>T , LRG_214t1:c.-323G>T	NP_000258.1:n.-323G>T
NM_001042492.2:c.-323G>T , LRG_214t2:c.-323G>T	NP_001035957.1:n.-323G>T
NM_001128147.2:c.-323G>T	NP_001121619.1:n.-323G>T
XM_005257983.1:c.-323G>T	XP_005258040.1:n.-323G>T
XM_005257984.1:c.-323G>T	XP_005258041.1:n.-323G>T
XM_006721922.1:c.-323G>T	XP_006721985.1:n.-323G>T
XM_006721923.2:c.21+22938G>T	XP_006721986.1:n.21+22938G>T
XM_006721924.1:c.-323G>T	XP_006721987.1:n.-323G>T
XM_006721925.1:c.-323G>T	XP_006721988.1:n.-323G>T
XM_006721926.2:c.-323G>T	XP_006721989.1:n.-323G>T
XM_006721927.1:c.-323G>T	XP_006721990.1:n.-323G>T
XM_006721928.2:c.-323G>T	XP_006721991.1:n.-323G>T
XM_011524852.1:c.-323G>T	XP_011523154.1:n.-323G>T
XM_011524853.1:c.21+22938G>T	XP_011523155.1:n.21+22938G>T
XM_011524854.1:c.21+22938G>T	XP_011523156.1:n.21+22938G>T
XM_011524855.1:c.21+22938G>T	XP_011523157.1:n.21+22938G>T
XM_011524856.1:c.21+22938G>T	XP_011523158.1:n.21+22938G>T
XM_011524857.1:c.-323G>T	XP_011523159.1:n.-323G>T
NM_001042492.3:c.-323G>T MANE Select	NP_001035957.1:n.-323G>T
NM_001128147.3:c.-323G>T	NP_001121619.1:n.-323G>T