Canonical Allele Identifier: CA405406316
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1191357267
gnomAD v2: 19-36339580-C-T
gnomAD v3: 19-35848678-C-T
gnomAD v4: 19-35848678-C-T
MyVariant Identifiers: chr19:g.36339580C>T (hg19) chr19:g.35848678C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848678C>T , CM000681.2:g.35848678C>T GRCh38
NC_000019.9:g.36339580C>T , CM000681.1:g.36339580C>T GRCh37
NC_000019.8:g.41031420C>T NCBI36
NG_013356.2:g.25610G>A , LRG_693:g.25610G>A
NG_051206.1:g.2044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1129G>A MANE Select ENSP00000368190.4:p.Gly377Ser
ENST00000353632.6:c.1129G>A ENSP00000343634.5:p.Gly377Ser
ENST00000378910.9:c.1129G>A ENSP00000368190.4:p.Gly377Ser
ENST00000592132.1:n.136G>A
NM_004646.3:c.1129G>A , LRG_693t1:c.1129G>A NP_004637.1:p.Gly377Ser
NM_004646.4:c.1129G>A MANE Select NP_004637.1:p.Gly377Ser
Search 100 bp 5'
Search 100 bp 3'