Canonical Allele Identifier: CA309446523

Gene: NTF4

Linked Data

• dbSNP Id: rs974105707
• gnomAD v2: 19-49564712-G-A
• gnomAD v3: 19-49061455-G-A
• gnomAD v4: 19-49061455-G-A
• MyVariant Identifiers: chr19:g.49564712G>A (hg19) ; chr19:g.49061455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061455G>A , CM000681.2:g.49061455G>A	GRCh38
NC_000019.9:g.49564712G>A , CM000681.1:g.49564712G>A	GRCh37
NC_000019.8:g.54256524G>A	NCBI36
NG_016289.1:g.7413C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593537.2:c.543C>T MANE Select	ENSP00000469455.1:p.Thr181=
ENST00000594938.2:c.543C>T	ENSP00000512387.1:p.Thr181=
ENST00000595857.6:c.543C>T	ENSP00000471508.2:p.Thr181=
ENST00000696088.1:c.543C>T	ENSP00000512384.1:p.Thr181=
ENST00000696089.1:c.543C>T	ENSP00000512385.1:p.Thr181=
ENST00000696090.1:c.543C>T	ENSP00000512386.1:p.Thr181=
ENST00000696091.1:c.543C>T	ENSP00000512388.1:p.Thr181=
ENST00000593537.1:c.543C>T	ENSP00000469455.1:p.Thr181=
ENST00000599795.5:c.243+300C>T	ENSP00000470689.1:n.243+300C>T
NM_006179.4:c.543C>T	NP_006170.1:p.Thr181=
XM_005258962.2:c.543C>T	XP_005259019.1:p.Thr181=
XM_006723232.2:c.543C>T	XP_006723295.1:p.Thr181=
XM_011527008.1:c.573C>T	XP_011525310.1:p.Thr191=
XM_011527009.1:c.543C>T	XP_011525311.1:p.Thr181=
XM_011527010.1:c.543C>T	XP_011525312.1:p.Thr181=
XM_005258962.3:c.543C>T	XP_005259019.1:p.Thr181=
XM_006723232.3:c.543C>T	XP_006723295.1:p.Thr181=
XM_011527008.2:c.573C>T	XP_011525310.1:p.Thr191=
XM_011527009.2:c.543C>T	XP_011525311.1:p.Thr181=
XM_011527010.2:c.543C>T	XP_011525312.1:p.Thr181=
XR_001753693.1:n.588C>T
XR_001753694.1:n.588C>T
NM_001395489.1:c.543C>T	NP_001382418.1:p.Thr181=
NM_006179.5:c.543C>T MANE Select	NP_006170.1:p.Thr181=