Canonical Allele Identifier: CA11944447
Gene: TIFAB HGNC NCBI
DCANP1 HGNC NCBI
dbSNP:
10061623
gnomAD v2:
5:134781081 G / A
gnomAD v3:
5:135445391 G / A
gnomAD v4:
chr5-135445391-G-A
Joint Max Group AF 0.37587107 (AFR)
Genomes Max Group AF 0.37586033 (AFR)
Exomes Max Group AF 0.19194531 (NFE)
MyVariant.info:
GRCh38 chr5:g.135445391G>A
GRCh37 chr5:g.134781081G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135445391G>A , CM000667.2:g.135445391G>A GRCh38
NC_000005.9:g.134781081G>A , CM000667.1:g.134781081G>A GRCh37
NC_000005.8:g.134808980G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000537858.2:c.*4063C>T (TIFAB) MANE Select ENSP00000440509.1:n.*4063C>T
ENST00000503143.3:c.*983C>T (DCANP1) MANE Select ENSP00000421871.1:n.*983C>T
ENST00000537858.1:c.*4063C>T (TIFAB) ENSP00000440509.1:n.*4063C>T
NM_130848.2:c.*983C>T (DCANP1) NP_570900.1:n.*983C>T
NM_001099221.2:c.*4063C>T (TIFAB) MANE Select NP_001092691.1:n.*4063C>T
NM_130848.3:c.*983C>T (DCANP1) MANE Select NP_570900.1:n.*983C>T
Search 100 bp 5'
Search 100 bp 3'