Canonical Allele Identifier: CA9390485
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447843
dbSNP Id: rs368523939

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848279T>C , CM000681.2:g.35848279T>C GRCh38
NC_000019.9:g.36339181T>C , CM000681.1:g.36339181T>C GRCh37
NC_000019.8:g.41031021T>C NCBI36
NG_013356.2:g.26009A>G , LRG_693:g.26009A>G
NG_051206.1:g.1645T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1289A>G MANE Select ENSP00000368190.4:p.Lys430Arg
ENST00000353632.6:c.1289A>G ENSP00000343634.5:p.Lys430Arg
ENST00000378910.9:c.1289A>G ENSP00000368190.4:p.Lys430Arg
ENST00000592132.1:n.296A>G
NM_004646.3:c.1289A>G , LRG_693t1:c.1289A>G NP_004637.1:p.Lys430Arg
NM_004646.4:c.1289A>G MANE Select NP_004637.1:p.Lys430Arg