Canonical Allele Identifier: CA399016647
Community Standard Title: NM_001042492.3(NF1):c.7190-1G>T
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31349119G>T , CM000679.2:g.31349119G>T GRCh38
NC_000017.10:g.29676137G>T , CM000679.1:g.29676137G>T GRCh37
NC_000017.9:g.26700263G>T NCBI36
NG_009018.1:g.259143G>T , LRG_214:g.259143G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.7190-1G>T MANE Select NP_001035957.1:n.7190-1G>T
ENST00000358273.9:c.7190-1G>T MANE Select ENSP00000351015.4:n.7190-1G>T
NM_000267.3:c.7127-1G>T , LRG_214t1:c.7127-1G>T NP_000258.1:n.7127-1G>T
NM_001042492.2:c.7190-1G>T , LRG_214t2:c.7190-1G>T NP_001035957.1:n.7190-1G>T
ENST00000356175.7:c.7127-1G>T ENSP00000348498.3:n.7127-1G>T
ENST00000358273.8:c.7190-1G>T ENSP00000351015.4:n.7190-1G>T
ENST00000456735.6:c.6125-1G>T ENSP00000389907.2:n.6125-1G>T
ENST00000471572.6:c.573-1G>T
ENST00000579081.5:c.7326-1G>T ENSP00000462408.1:n.7326-1G>T
ENST00000581790.5:c.333-1G>T
ENST00000582892.1:n.432-1G>T
ENST00000684826.1:c.1754-1G>T ENSP00000509994.1:n.1754-1G>T
ENST00000687027.1:c.1346-1G>T ENSP00000508715.1:n.1346-1G>T
ENST00000687863.1:n.3835-1G>T
ENST00000689464.1:c.240-1G>T
ENST00000691014.1:c.7220-1G>T ENSP00000510595.1:n.7220-1G>T
ENST00000693617.1:c.1754-1G>T ENSP00000510031.1:n.1754-1G>T
ENST00000696138.1:c.7172-1G>T ENSP00000512431.1:n.7172-1G>T
XM_005257983.1:c.7190-1G>T XP_005258040.1:n.7190-1G>T
XM_005257984.1:c.7127-1G>T XP_005258041.1:n.7127-1G>T
XM_006721922.1:c.7220-1G>T XP_006721985.1:n.7220-1G>T
XM_006721923.2:c.7181-1G>T XP_006721986.1:n.7181-1G>T
XM_006721924.1:c.7220-1G>T XP_006721987.1:n.7220-1G>T
XM_006721925.1:c.7157-1G>T XP_006721988.1:n.7157-1G>T
XM_006721926.2:c.7220-1G>T XP_006721989.1:n.7220-1G>T
XM_006721927.1:c.7220-1G>T XP_006721990.1:n.7220-1G>T
XM_011524852.1:c.7217-1G>T XP_011523154.1:n.7217-1G>T
XM_011524853.1:c.7181-1G>T XP_011523155.1:n.7181-1G>T
XM_011524854.1:c.7181-1G>T XP_011523156.1:n.7181-1G>T
XM_011524855.1:c.7181-1G>T XP_011523157.1:n.7181-1G>T
XM_011524856.1:c.7181-1G>T XP_011523158.1:n.7181-1G>T
XM_011524857.1:c.7220-1G>T XP_011523159.1:n.7220-1G>T