Canonical Allele Identifier: CA9390677
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415628
ClinVar RCV Id: RCV003104840
dbSNP Id: rs774808086
ExAC: 19:36340256 C / T
gnomAD v2: 19-36340256-C-T
gnomAD v3: 19-35849354-C-T
gnomAD v4: 19-35849354-C-T
MyVariant Identifiers: chr19:g.36340256C>T (hg19) chr19:g.35849354C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849354C>T , CM000681.2:g.35849354C>T GRCh38
NC_000019.9:g.36340256C>T , CM000681.1:g.36340256C>T GRCh37
NC_000019.8:g.41032096C>T NCBI36
NG_013356.2:g.24934G>A , LRG_693:g.24934G>A
NG_051206.1:g.2720C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.722G>A MANE Select ENSP00000368190.4:p.Gly241Glu
ENST00000353632.6:c.722G>A ENSP00000343634.5:p.Gly241Glu
ENST00000378910.9:c.722G>A ENSP00000368190.4:p.Gly241Glu
NM_004646.3:c.722G>A , LRG_693t1:c.722G>A NP_004637.1:p.Gly241Glu
NM_004646.4:c.722G>A MANE Select NP_004637.1:p.Gly241Glu
Search 100 bp 5'
Search 100 bp 3'