Canonical Allele Identifier: CA9390692
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1518364
dbSNP Id: rs373835033

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849552A>T , CM000681.2:g.35849552A>T GRCh38
NC_000019.9:g.36340454A>T , CM000681.1:g.36340454A>T GRCh37
NC_000019.8:g.41032294A>T NCBI36
NG_013356.2:g.24736T>A , LRG_693:g.24736T>A
NG_051206.1:g.2918A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.710T>A MANE Select ENSP00000368190.4:p.Leu237Gln
ENST00000353632.6:c.710T>A ENSP00000343634.5:p.Leu237Gln
ENST00000378910.9:c.710T>A ENSP00000368190.4:p.Leu237Gln
NM_004646.3:c.710T>A , LRG_693t1:c.710T>A NP_004637.1:p.Leu237Gln
NM_004646.4:c.710T>A MANE Select NP_004637.1:p.Leu237Gln