Canonical Allele Identifier: CA633061302
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1545813
ClinVar RCV Id: RCV002168198
dbSNP Id: rs1342162613
gnomAD v2: 19-36336900-G-T
gnomAD v4: 19-35845998-G-T
MyVariant Identifiers: chr19:g.36336900G>T (hg19) chr19:g.35845998G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845998G>T , CM000681.2:g.35845998G>T GRCh38
NC_000019.9:g.36336900G>T , CM000681.1:g.36336900G>T GRCh37
NC_000019.8:g.41028740G>T NCBI36
NG_013356.2:g.28290C>A , LRG_693:g.28290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1627+10C>A MANE Select ENSP00000368190.4:n.1627+10C>A
ENST00000353632.6:c.1627+10C>A ENSP00000343634.5:n.1627+10C>A
ENST00000378910.9:c.1627+10C>A ENSP00000368190.4:n.1627+10C>A
NM_004646.3:c.1627+10C>A , LRG_693t1:c.1627+10C>A NP_004637.1:n.1627+10C>A
NM_004646.4:c.1627+10C>A MANE Select NP_004637.1:n.1627+10C>A
Search 100 bp 5'
Search 100 bp 3'