Canonical Allele Identifier: CA250079
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56417
ClinVar RCV Id: RCV000049830 RCV003421960
dbSNP Id: rs386833861
ExAC: 19:36339690 G / T
gnomAD v2: 19-36339690-G-T
gnomAD v4: 19-35848788-G-T
MyVariant Identifiers: chr19:g.36339690G>T (hg19) chr19:g.35848788G>T (hg38)
PubMed: PMID:20172850
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848788G>T , CM000681.2:g.35848788G>T GRCh38
NC_000019.9:g.36339690G>T , CM000681.1:g.36339690G>T GRCh37
NC_000019.8:g.41031530G>T NCBI36
NG_013356.2:g.25500C>A , LRG_693:g.25500C>A
NG_051206.1:g.2154G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.1019C>A MANE Select ENSP00000368190.4:p.Pro340His
ENST00000353632.6:c.1019C>A ENSP00000343634.5:p.Pro340His
ENST00000378910.9:c.1019C>A ENSP00000368190.4:p.Pro340His
ENST00000592132.1:n.26C>A
NM_004646.3:c.1019C>A , LRG_693t1:c.1019C>A NP_004637.1:p.Pro340His
NM_004646.4:c.1019C>A MANE Select NP_004637.1:p.Pro340His
Search 100 bp 5'
Search 100 bp 3'