Canonical Allele Identifier: CA307787675
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2871430
ClinVar RCV Id: RCV003698466
dbSNP Id: rs145405155
gnomAD v3: 19-35849067-C-T
gnomAD v4: 19-35849067-C-T
MyVariant Identifiers: chr19:g.36339969C>T (hg19) chr19:g.35849067C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849067C>T , CM000681.2:g.35849067C>T GRCh38
NC_000019.9:g.36339969C>T , CM000681.1:g.36339969C>T GRCh37
NC_000019.8:g.41031809C>T NCBI36
NG_013356.2:g.25221G>A , LRG_693:g.25221G>A
NG_051206.1:g.2433C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.921G>A MANE Select ENSP00000368190.4:p.Arg307=
ENST00000353632.6:c.921G>A ENSP00000343634.5:p.Arg307=
ENST00000378910.9:c.921G>A ENSP00000368190.4:p.Arg307=
NM_004646.3:c.921G>A , LRG_693t1:c.921G>A NP_004637.1:p.Arg307=
NM_004646.4:c.921G>A MANE Select NP_004637.1:p.Arg307=
Search 100 bp 5'
Search 100 bp 3'