Canonical Allele Identifier: CA9390604
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 990525
ClinVar RCV Id: RCV001278567
dbSNP Id: rs755582721
ExAC: 19:36339994 C / T
gnomAD v2: 19-36339994-C-T
gnomAD v3: 19-35849092-C-T
gnomAD v4: 19-35849092-C-T
MyVariant Identifiers: chr19:g.36339994C>T (hg19) chr19:g.35849092C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849092C>T , CM000681.2:g.35849092C>T GRCh38
NC_000019.9:g.36339994C>T , CM000681.1:g.36339994C>T GRCh37
NC_000019.8:g.41031834C>T NCBI36
NG_013356.2:g.25196G>A , LRG_693:g.25196G>A
NG_051206.1:g.2458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.896G>A MANE Select ENSP00000368190.4:p.Arg299His
ENST00000353632.6:c.896G>A ENSP00000343634.5:p.Arg299His
ENST00000378910.9:c.896G>A ENSP00000368190.4:p.Arg299His
NM_004646.3:c.896G>A , LRG_693t1:c.896G>A NP_004637.1:p.Arg299His
NM_004646.4:c.896G>A MANE Select NP_004637.1:p.Arg299His
Search 100 bp 5'
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