Canonical Allele Identifier: CA507085989
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1630027
ClinVar RCV Id: RCV002118758
dbSNP Id: rs2146831053
MyVariant Identifiers: chr19:g.36341882A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850980A>G , CM000681.2:g.35850980A>G GRCh38
NC_000019.9:g.36341882A>G , CM000681.1:g.36341882A>G GRCh37
NC_000019.8:g.41033722A>G NCBI36
NG_013356.2:g.23308T>C , LRG_693:g.23308T>C
NG_051206.1:g.4346A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.507T>C MANE Select ENSP00000368190.4:p.Pro169=
ENST00000353632.6:c.507T>C ENSP00000343634.5:p.Pro169=
ENST00000378910.9:c.507T>C ENSP00000368190.4:p.Pro169=
NM_004646.3:c.507T>C , LRG_693t1:c.507T>C NP_004637.1:p.Pro169=
NM_004646.4:c.507T>C MANE Select NP_004637.1:p.Pro169=
Search 100 bp 5'
Search 100 bp 3'