Canonical Allele Identifier: CA507082940
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3046857
ClinVar RCV Id: RCV003946799
dbSNP Id: rs1243404045
gnomAD v2: 19-36336944-T-A
gnomAD v3: 19-35846042-T-A
gnomAD v4: 19-35846042-T-A
MyVariant Identifiers: chr19:g.36336944T>A (hg19) chr19:g.35846042T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846042T>A , CM000681.2:g.35846042T>A GRCh38
NC_000019.9:g.36336944T>A , CM000681.1:g.36336944T>A GRCh37
NC_000019.8:g.41028784T>A NCBI36
NG_013356.2:g.28246A>T , LRG_693:g.28246A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1593A>T MANE Select ENSP00000368190.4:p.Gly531=
ENST00000353632.6:c.1593A>T ENSP00000343634.5:p.Gly531=
ENST00000378910.9:c.1593A>T ENSP00000368190.4:p.Gly531=
NM_004646.3:c.1593A>T , LRG_693t1:c.1593A>T NP_004637.1:p.Gly531=
NM_004646.4:c.1593A>T MANE Select NP_004637.1:p.Gly531=
Search 100 bp 5'
Search 100 bp 3'