Canonical Allele Identifier: CA632776748
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs368826803
gnomAD v2: 19-36340425-C-A
gnomAD v4: 19-35849523-C-A
MyVariant Identifiers: chr19:g.36340425C>A (hg19) chr19:g.35849523C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849523C>A , CM000681.2:g.35849523C>A GRCh38
NC_000019.9:g.36340425C>A , CM000681.1:g.36340425C>A GRCh37
NC_000019.8:g.41032265C>A NCBI36
NG_013356.2:g.24765G>T , LRG_693:g.24765G>T
NG_051206.1:g.2889C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.712+27G>T MANE Select ENSP00000368190.4:n.712+27G>T
ENST00000353632.6:c.712+27G>T ENSP00000343634.5:n.712+27G>T
ENST00000378910.9:c.712+27G>T ENSP00000368190.4:n.712+27G>T
NM_004646.3:c.712+27G>T , LRG_693t1:c.712+27G>T NP_004637.1:n.712+27G>T
NM_004646.4:c.712+27G>T MANE Select NP_004637.1:n.712+27G>T
Search 100 bp 5'
Search 100 bp 3'