Canonical Allele Identifier: CA406806159

Gene: NTF4

Linked Data

• dbSNP Id: rs1349752492
• COSMIC: COSM5624410
• MyVariant Identifiers: chr19:g.49564870C>A (hg19) ; chr19:g.49061613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061613C>A , CM000681.2:g.49061613C>A	GRCh38
NC_000019.9:g.49564870C>A , CM000681.1:g.49564870C>A	GRCh37
NC_000019.8:g.54256682C>A	NCBI36
NG_016289.1:g.7255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593537.2:c.385G>T MANE Select	ENSP00000469455.1:p.Gly129Cys
ENST00000594938.2:c.385G>T	ENSP00000512387.1:p.Gly129Cys
ENST00000595857.6:c.385G>T	ENSP00000471508.2:p.Gly129Cys
ENST00000696088.1:c.385G>T	ENSP00000512384.1:p.Gly129Cys
ENST00000696089.1:c.385G>T	ENSP00000512385.1:p.Gly129Cys
ENST00000696090.1:c.385G>T	ENSP00000512386.1:p.Gly129Cys
ENST00000696091.1:c.385G>T	ENSP00000512388.1:p.Gly129Cys
ENST00000593537.1:c.385G>T	ENSP00000469455.1:p.Gly129Cys
ENST00000595857.5:c.385G>T	ENSP00000471508.1:p.Gly129Cys
ENST00000599795.5:c.243+142G>T	ENSP00000470689.1:n.243+142G>T
NM_006179.4:c.385G>T	NP_006170.1:p.Gly129Cys
XM_005258962.2:c.385G>T	XP_005259019.1:p.Gly129Cys
XM_006723232.2:c.385G>T	XP_006723295.1:p.Gly129Cys
XM_011527008.1:c.415G>T	XP_011525310.1:p.Gly139Cys
XM_011527009.1:c.385G>T	XP_011525311.1:p.Gly129Cys
XM_011527010.1:c.385G>T	XP_011525312.1:p.Gly129Cys
XM_005258962.3:c.385G>T	XP_005259019.1:p.Gly129Cys
XM_006723232.3:c.385G>T	XP_006723295.1:p.Gly129Cys
XM_011527008.2:c.415G>T	XP_011525310.1:p.Gly139Cys
XM_011527009.2:c.385G>T	XP_011525311.1:p.Gly129Cys
XM_011527010.2:c.385G>T	XP_011525312.1:p.Gly129Cys
XR_001753693.1:n.430G>T
XR_001753694.1:n.430G>T
NM_001395489.1:c.385G>T	NP_001382418.1:p.Gly129Cys
NM_006179.5:c.385G>T MANE Select	NP_006170.1:p.Gly129Cys