Canonical Allele Identifier: CA406805052

Gene: NTF4

Linked Data

• dbSNP Id: rs1488911653
• gnomAD v2: 19-49564711-C-T
• gnomAD v4: 19-49061454-C-T
• MyVariant Identifiers: chr19:g.49564711C>T (hg19) ; chr19:g.49061454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061454C>T , CM000681.2:g.49061454C>T	GRCh38
NC_000019.9:g.49564711C>T , CM000681.1:g.49564711C>T	GRCh37
NC_000019.8:g.54256523C>T	NCBI36
NG_016289.1:g.7414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593537.2:c.544G>A MANE Select	ENSP00000469455.1:p.Ala182Thr
ENST00000594938.2:c.544G>A	ENSP00000512387.1:p.Ala182Thr
ENST00000595857.6:c.544G>A	ENSP00000471508.2:p.Ala182Thr
ENST00000696088.1:c.544G>A	ENSP00000512384.1:p.Ala182Thr
ENST00000696089.1:c.544G>A	ENSP00000512385.1:p.Ala182Thr
ENST00000696090.1:c.544G>A	ENSP00000512386.1:p.Ala182Thr
ENST00000696091.1:c.544G>A	ENSP00000512388.1:p.Ala182Thr
ENST00000593537.1:c.544G>A	ENSP00000469455.1:p.Ala182Thr
ENST00000599795.5:c.243+301G>A	ENSP00000470689.1:n.243+301G>A
NM_006179.4:c.544G>A	NP_006170.1:p.Ala182Thr
XM_005258962.2:c.544G>A	XP_005259019.1:p.Ala182Thr
XM_006723232.2:c.544G>A	XP_006723295.1:p.Ala182Thr
XM_011527008.1:c.574G>A	XP_011525310.1:p.Ala192Thr
XM_011527009.1:c.544G>A	XP_011525311.1:p.Ala182Thr
XM_011527010.1:c.544G>A	XP_011525312.1:p.Ala182Thr
XM_005258962.3:c.544G>A	XP_005259019.1:p.Ala182Thr
XM_006723232.3:c.544G>A	XP_006723295.1:p.Ala182Thr
XM_011527008.2:c.574G>A	XP_011525310.1:p.Ala192Thr
XM_011527009.2:c.544G>A	XP_011525311.1:p.Ala182Thr
XM_011527010.2:c.544G>A	XP_011525312.1:p.Ala182Thr
XR_001753693.1:n.589G>A
XR_001753694.1:n.589G>A
NM_001395489.1:c.544G>A	NP_001382418.1:p.Ala182Thr
NM_006179.5:c.544G>A MANE Select	NP_006170.1:p.Ala182Thr