Canonical Allele Identifier: CA187521626
Gene: ZFP41 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.143250043C>T
GRCh37 chr8:g.144332213C>T
Revel Score:
ENST00000520584 0.026
ENST00000330701 (MANE Select) 0.026
ENST00000522452 0.026
gnomAD v2:
8:144332213 C / T
gnomAD v3:
8:143250043 C / T
gnomAD v4:
chr8-143250043-C-T
Joint Max Group AF 0.00006225 (AFR)
Genomes Max Group AF 0.00006269 (AFR)
Exomes Max Group AF 0.00002374 (AFR)
ClinVar RCV:
RCV004126709
ClinVar Variation:
2276016
dbSNP:
1051676191
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143250043C>T , CM000670.2:g.143250043C>T GRCh38
NC_000008.10:g.144332213C>T , CM000670.1:g.144332213C>T GRCh37
NC_000008.9:g.144403588C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000330701.7:c.200C>T MANE Select ENSP00000327427.6:p.Ser67Leu
ENST00000520584.6:c.200C>T ENSP00000430465.3:p.Ser67Leu
ENST00000522452.2:c.200C>T ENSP00000428966.3:p.Ser67Leu
ENST00000330701.5:c.203C>T ENSP00000327427.5:p.Ser68Leu
ENST00000520584.5:c.203C>T ENSP00000430465.2:p.Ser68Leu
ENST00000522452.1:c.203C>T ENSP00000428966.2:p.Ser68Leu
NM_001271156.2:c.203C>T NP_001258085.2:p.Ser68Leu
NM_173832.5:c.203C>T NP_776193.2:p.Ser68Leu
NM_001271156.3:c.200C>T NP_001258085.3:p.Ser67Leu
NM_173832.6:c.200C>T MANE Select NP_776193.3:p.Ser67Leu
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