Canonical Allele Identifier: CA9390385
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 721129
ClinVar RCV Id: RCV000894576 RCV001277292 RCV003950441
dbSNP Id: rs375861433
ExAC: 19:36336917 C / G
gnomAD v2: 19-36336917-C-G
gnomAD v3: 19-35846015-C-G
gnomAD v4: 19-35846015-C-G
COSMIC: COSM4172235
MyVariant Identifiers: chr19:g.36336917C>G (hg19) chr19:g.35846015C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846015C>G , CM000681.2:g.35846015C>G GRCh38
NC_000019.9:g.36336917C>G , CM000681.1:g.36336917C>G GRCh37
NC_000019.8:g.41028757C>G NCBI36
NG_013356.2:g.28273G>C , LRG_693:g.28273G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1620G>C MANE Select ENSP00000368190.4:p.Ala540=
ENST00000353632.6:c.1620G>C ENSP00000343634.5:p.Ala540=
ENST00000378910.9:c.1620G>C ENSP00000368190.4:p.Ala540=
NM_004646.3:c.1620G>C , LRG_693t1:c.1620G>C NP_004637.1:p.Ala540=
NM_004646.4:c.1620G>C MANE Select NP_004637.1:p.Ala540=
Search 100 bp 5'
Search 100 bp 3'