Canonical Allele Identifier: CA507314001
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429811
ClinVar RCV Id: RCV000712429 RCV002489211
dbSNP Id: rs1131691606
gnomAD v4: 19-35839322-T-C
MyVariant Identifiers: chr19:g.36330224T>C (hg19) chr19:g.35839322T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35839322T>C , CM000681.2:g.35839322T>C GRCh38
NC_000019.9:g.36330224T>C , CM000681.1:g.36330224T>C GRCh37
NC_000019.8:g.41022064T>C NCBI36
NG_013356.2:g.34966A>G , LRG_693:g.34966A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3024A>G MANE Select ENSP00000368190.4:p.Arg1008=
ENST00000353632.6:c.3024A>G ENSP00000343634.5:p.Arg1008=
ENST00000378910.9:c.3024A>G ENSP00000368190.4:p.Arg1008=
NM_004646.3:c.3024A>G , LRG_693t1:c.3024A>G NP_004637.1:p.Arg1008=
NM_004646.4:c.3024A>G MANE Select NP_004637.1:p.Arg1008=
Search 100 bp 5'
Search 100 bp 3'