Canonical Allele Identifier: CA507314556
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1161531
ClinVar RCV Id: RCV001506084
dbSNP Id: rs767772136
gnomAD v4: 19-35849251-T-C
MyVariant Identifiers: chr19:g.36340153T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849251T>C , CM000681.2:g.35849251T>C GRCh38
NC_000019.9:g.36340153T>C , CM000681.1:g.36340153T>C GRCh37
NC_000019.8:g.41031993T>C NCBI36
NG_013356.2:g.25037A>G , LRG_693:g.25037A>G
NG_051206.1:g.2617T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.825A>G MANE Select ENSP00000368190.4:p.Thr275=
ENST00000353632.6:c.825A>G ENSP00000343634.5:p.Thr275=
ENST00000378910.9:c.825A>G ENSP00000368190.4:p.Thr275=
NM_004646.3:c.825A>G , LRG_693t1:c.825A>G NP_004637.1:p.Thr275=
NM_004646.4:c.825A>G MANE Select NP_004637.1:p.Thr275=
Search 100 bp 5'
Search 100 bp 3'