Canonical Allele Identifier: CA405391761
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1422562577
gnomAD v2: 19-36333111-T-C
gnomAD v4: 19-35842209-T-C
MyVariant Identifiers: chr19:g.36333111T>C (hg19) chr19:g.35842209T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842209T>C , CM000681.2:g.35842209T>C GRCh38
NC_000019.9:g.36333111T>C , CM000681.1:g.36333111T>C GRCh37
NC_000019.8:g.41024951T>C NCBI36
NG_013356.2:g.32079A>G , LRG_693:g.32079A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2578A>G MANE Select ENSP00000368190.4:p.Thr860Ala
ENST00000353632.6:c.2578A>G ENSP00000343634.5:p.Thr860Ala
ENST00000378910.9:c.2578A>G ENSP00000368190.4:p.Thr860Ala
NM_004646.3:c.2578A>G , LRG_693t1:c.2578A>G NP_004637.1:p.Thr860Ala
NM_004646.4:c.2578A>G MANE Select NP_004637.1:p.Thr860Ala
Search 100 bp 5'
Search 100 bp 3'