Canonical Allele Identifier: CA204846
Gene: NTF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 208763
ClinVar RCV Id: RCV000190785
dbSNP Id: rs797044939
MyVariant Identifiers: chr19:g.49564734T>C (hg19) chr19:g.49061477T>C (hg38)
PubMed: PMID:19765683 PMID:20215012 PMID:20463313 PMID:20806036
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49061477T>C , CM000681.2:g.49061477T>C GRCh38
NC_000019.9:g.49564734T>C , CM000681.1:g.49564734T>C GRCh37
NC_000019.8:g.54256546T>C NCBI36
NG_016289.1:g.7391A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000593537.2:c.521A>G MANE Select ENSP00000469455.1:p.Gln174Arg
ENST00000594938.2:c.521A>G ENSP00000512387.1:p.Gln174Arg
ENST00000595857.6:c.521A>G ENSP00000471508.2:p.Gln174Arg
ENST00000696088.1:c.521A>G ENSP00000512384.1:p.Gln174Arg
ENST00000696089.1:c.521A>G ENSP00000512385.1:p.Gln174Arg
ENST00000696090.1:c.521A>G ENSP00000512386.1:p.Gln174Arg
ENST00000696091.1:c.521A>G ENSP00000512388.1:p.Gln174Arg
ENST00000593537.1:c.521A>G ENSP00000469455.1:p.Gln174Arg
ENST00000599795.5:c.243+278A>G ENSP00000470689.1:n.243+278A>G
NM_006179.4:c.521A>G NP_006170.1:p.Gln174Arg
XM_005258962.2:c.521A>G XP_005259019.1:p.Gln174Arg
XM_006723232.2:c.521A>G XP_006723295.1:p.Gln174Arg
XM_011527008.1:c.551A>G XP_011525310.1:p.Gln184Arg
XM_011527009.1:c.521A>G XP_011525311.1:p.Gln174Arg
XM_011527010.1:c.521A>G XP_011525312.1:p.Gln174Arg
XM_005258962.3:c.521A>G XP_005259019.1:p.Gln174Arg
XM_006723232.3:c.521A>G XP_006723295.1:p.Gln174Arg
XM_011527008.2:c.551A>G XP_011525310.1:p.Gln184Arg
XM_011527009.2:c.521A>G XP_011525311.1:p.Gln174Arg
XM_011527010.2:c.521A>G XP_011525312.1:p.Gln174Arg
XR_001753693.1:n.566A>G
XR_001753694.1:n.566A>G
NM_001395489.1:c.521A>G NP_001382418.1:p.Gln174Arg
NM_006179.5:c.521A>G MANE Select NP_006170.1:p.Gln174Arg
Search 100 bp 5'
Search 100 bp 3'