Canonical Allele Identifier: CA309446193

Gene: NTF4

Linked Data

• dbSNP Id: rs768356187
• gnomAD v2: 19-49564443-T-C
• gnomAD v3: 19-49061186-T-C
• gnomAD v4: 19-49061186-T-C
• MyVariant Identifiers: chr19:g.49564443T>C (hg19) ; chr19:g.49061186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061186T>C , CM000681.2:g.49061186T>C	GRCh38
NC_000019.9:g.49564443T>C , CM000681.1:g.49564443T>C	GRCh37
NC_000019.8:g.54256255T>C	NCBI36
NG_016289.1:g.7682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593537.2:c.*179A>G MANE Select	ENSP00000469455.1:n.*179A>G
ENST00000594938.2:c.*179A>G	ENSP00000512387.1:n.*179A>G
ENST00000595857.6:c.*179A>G	ENSP00000471508.2:n.*179A>G
ENST00000696088.1:c.*179A>G	ENSP00000512384.1:n.*179A>G
ENST00000696089.1:c.*179A>G	ENSP00000512385.1:n.*179A>G
ENST00000696090.1:c.*179A>G	ENSP00000512386.1:n.*179A>G
ENST00000696091.1:c.*179A>G	ENSP00000512388.1:n.*179A>G
ENST00000593537.1:c.812A>G	ENSP00000469455.1:n.812A>G
ENST00000599795.5:c.243+569A>G	ENSP00000470689.1:n.243+569A>G
NM_006179.4:c.*179A>G	NP_006170.1:n.*179A>G
XM_005258962.2:c.*179A>G	XP_005259019.1:n.*179A>G
XM_006723232.2:c.*179A>G	XP_006723295.1:n.*179A>G
XM_011527008.1:c.*179A>G	XP_011525310.1:n.*179A>G
XM_011527009.1:c.*179A>G	XP_011525311.1:n.*179A>G
XM_011527010.1:c.*179A>G	XP_011525312.1:n.*179A>G
XM_005258962.3:c.*179A>G	XP_005259019.1:n.*179A>G
XM_006723232.3:c.*179A>G	XP_006723295.1:n.*179A>G
XM_011527008.2:c.*179A>G	XP_011525310.1:n.*179A>G
XM_011527009.2:c.*179A>G	XP_011525311.1:n.*179A>G
XM_011527010.2:c.*179A>G	XP_011525312.1:n.*179A>G
XR_001753693.1:n.857A>G
XR_001753694.1:n.857A>G
NM_001395489.1:c.*179A>G	NP_001382418.1:n.*179A>G
NM_006179.5:c.*179A>G MANE Select	NP_006170.1:n.*179A>G