Canonical Allele Identifier: CA405404427
Gene: NPHS1 HGNC NCBI
dbSNP:
386833879
gnomAD v3:
19:35848144 A / G
gnomAD v4:
chr19-35848144-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr19:g.35848144A>G
GRCh37 chr19:g.36339046A>G
Revel Score:
ENST00000378910 (MANE Select) 0.776
ENST00000353632 0.776
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848144A>G , CM000681.2:g.35848144A>G GRCh38
NC_000019.9:g.36339046A>G , CM000681.1:g.36339046A>G GRCh37
NC_000019.8:g.41030886A>G NCBI36
NG_013356.2:g.26144T>C , LRG_693:g.26144T>C
NG_051206.1:g.1510A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1337T>C MANE Select ENSP00000368190.4:p.Ile446Thr
ENST00000353632.6:c.1337T>C ENSP00000343634.5:p.Ile446Thr
ENST00000378910.9:c.1337T>C ENSP00000368190.4:p.Ile446Thr
ENST00000592132.1:n.344T>C
NM_004646.3:c.1337T>C , LRG_693t1:c.1337T>C NP_004637.1:p.Ile446Thr
NM_004646.4:c.1337T>C MANE Select NP_004637.1:p.Ile446Thr
Search 100 bp 5'
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