Canonical Allele Identifier: CA9390093
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1103435
ClinVar RCV Id: RCV001427137
dbSNP Id: rs774650580
ExAC: 19:36333169 C / T
gnomAD v2: 19-36333169-C-T
gnomAD v4: 19-35842267-C-T
COSMIC: COSM5389480
MyVariant Identifiers: chr19:g.36333169C>T (hg19) chr19:g.35842267C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842267C>T , CM000681.2:g.35842267C>T GRCh38
NC_000019.9:g.36333169C>T , CM000681.1:g.36333169C>T GRCh37
NC_000019.8:g.41025009C>T NCBI36
NG_013356.2:g.32021G>A , LRG_693:g.32021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2520G>A MANE Select ENSP00000368190.4:p.Val840=
ENST00000353632.6:c.2520G>A ENSP00000343634.5:p.Val840=
ENST00000378910.9:c.2520G>A ENSP00000368190.4:p.Val840=
NM_004646.3:c.2520G>A , LRG_693t1:c.2520G>A NP_004637.1:p.Val840=
NM_004646.4:c.2520G>A MANE Select NP_004637.1:p.Val840=
Search 100 bp 5'
Search 100 bp 3'