Canonical Allele Identifier: CA341836049

Linked Data

ClinVar Variation Id: 933958
ClinVar RCV Id: RCV001202277
dbSNP Id: rs1432643322

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115286134C>A , CM000663.2:g.115286134C>A GRCh38
NC_000001.10:g.115828755C>A , CM000663.1:g.115828755C>A GRCh37
NC_000001.9:g.115630278C>A NCBI36
NG_007944.1:g.57103G>T , LRG_260:g.57103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369512.3:c.662G>T (NGF) MANE Select ENSP00000358525.2:p.Arg221Leu
ENST00000675637.2:c.662G>T (NGF) ENSP00000502831.1:p.Arg221Leu
ENST00000676038.2:c.662G>T (NGF) ENSP00000502380.1:p.Arg221Leu
ENST00000679806.1:c.662G>T (NGF) ENSP00000506492.1:p.Arg221Leu
ENST00000680116.1:c.662G>T (NGF) ENSP00000505694.1:p.Arg221Leu
ENST00000680540.1:c.662G>T (NGF) ENSP00000506569.1:p.Arg221Leu
ENST00000680752.1:c.662G>T (NGF) ENSP00000505558.1:p.Arg221Leu
ENST00000681124.1:c.191G>T (NGF) ENSP00000506364.1:p.Arg64Leu
ENST00000369512.2:c.662G>T (NGF) ENSP00000358525.2:p.Arg221Leu
NM_002506.2:c.662G>T , LRG_260t1:c.662G>T (NGF) NP_002497.2:p.Arg221Leu
XM_006710663.2:c.662G>T (NGF) XP_006710726.1:p.Arg221Leu
XM_006710665.2:c.662G>T (NGF) XP_006710728.1:p.Arg221Leu
XM_011541518.1:c.827G>T (NGF) XP_011539820.1:p.Arg276Leu
NR_157569.1:n.207+2894C>A (NGF-AS1)
XM_006710663.3:c.662G>T (NGF) XP_006710726.1:p.Arg221Leu
XM_011541518.2:c.827G>T (NGF) XP_011539820.1:p.Arg276Leu
NM_002506.3:c.662G>T (NGF) MANE Select NP_002497.2:p.Arg221Leu