Canonical Allele Identifier: CA2576223215

Gene: NF1

Linked Data

• gnomAD v4: 17-31228932-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31228932T>C , CM000679.2:g.31228932T>C	GRCh38
NC_000017.10:g.29555950T>C , CM000679.1:g.29555950T>C	GRCh37
NC_000017.9:g.26580076T>C	NCBI36
NG_009018.1:g.138956T>C , LRG_214:g.138956T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.2455-93T>C	ENSP00000512431.1:n.2455-93T>C
ENST00000691014.1:c.2440-93T>C	ENSP00000510595.1:n.2440-93T>C
ENST00000358273.9:c.2410-93T>C MANE Select	ENSP00000351015.4:n.2410-93T>C
ENST00000356175.7:c.2410-93T>C	ENSP00000348498.3:n.2410-93T>C
ENST00000358273.8:c.2410-93T>C	ENSP00000351015.4:n.2410-93T>C
ENST00000456735.6:c.1408-93T>C	ENSP00000389907.2:n.1408-93T>C
ENST00000493220.5:n.577-93T>C
ENST00000495910.6:c.2185-93T>C
ENST00000579081.5:c.2512-93T>C	ENSP00000462408.1:n.2512-93T>C
NM_000267.3:c.2410-93T>C , LRG_214t1:c.2410-93T>C	NP_000258.1:n.2410-93T>C
NM_001042492.2:c.2410-93T>C , LRG_214t2:c.2410-93T>C	NP_001035957.1:n.2410-93T>C
XM_005257983.1:c.2410-93T>C	XP_005258040.1:n.2410-93T>C
XM_005257984.1:c.2410-93T>C	XP_005258041.1:n.2410-93T>C
XM_006721922.1:c.2440-93T>C	XP_006721985.1:n.2440-93T>C
XM_006721923.2:c.2401-93T>C	XP_006721986.1:n.2401-93T>C
XM_006721924.1:c.2440-93T>C	XP_006721987.1:n.2440-93T>C
XM_006721925.1:c.2440-93T>C	XP_006721988.1:n.2440-93T>C
XM_006721926.2:c.2440-93T>C	XP_006721989.1:n.2440-93T>C
XM_006721927.1:c.2440-93T>C	XP_006721990.1:n.2440-93T>C
XM_006721928.2:c.2440-93T>C	XP_006721991.1:n.2440-93T>C
XM_011524852.1:c.2437-93T>C	XP_011523154.1:n.2437-93T>C
XM_011524853.1:c.2401-93T>C	XP_011523155.1:n.2401-93T>C
XM_011524854.1:c.2401-93T>C	XP_011523156.1:n.2401-93T>C
XM_011524855.1:c.2401-93T>C	XP_011523157.1:n.2401-93T>C
XM_011524856.1:c.2401-93T>C	XP_011523158.1:n.2401-93T>C
XM_011524857.1:c.2440-93T>C	XP_011523159.1:n.2440-93T>C
NM_001042492.3:c.2410-93T>C MANE Select	NP_001035957.1:n.2410-93T>C