Canonical Allele Identifier: CA250275
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56523
ClinVar RCV Id: RCV000049936 RCV003320551
dbSNP Id: rs386833961
ExAC: 19:36340170 C / A
gnomAD v2: 19-36340170-C-A
gnomAD v4: 19-35849268-C-A
MyVariant Identifiers: chr19:g.36340170C>A (hg19) chr19:g.35849268C>A (hg38)
PubMed: PMID:9915943 PMID:11854170
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849268C>A , CM000681.2:g.35849268C>A GRCh38
NC_000019.9:g.36340170C>A , CM000681.1:g.36340170C>A GRCh37
NC_000019.8:g.41032010C>A NCBI36
NG_013356.2:g.25020G>T , LRG_693:g.25020G>T
NG_051206.1:g.2634C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.808G>T MANE Select ENSP00000368190.4:p.Gly270Cys
ENST00000353632.6:c.808G>T ENSP00000343634.5:p.Gly270Cys
ENST00000378910.9:c.808G>T ENSP00000368190.4:p.Gly270Cys
NM_004646.3:c.808G>T , LRG_693t1:c.808G>T NP_004637.1:p.Gly270Cys
NM_004646.4:c.808G>T MANE Select NP_004637.1:p.Gly270Cys
Search 100 bp 5'
Search 100 bp 3'