Canonical Allele Identifier: CA507086020
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973237311
gnomAD v3: 19-35850989-C-T
gnomAD v4: 19-35850989-C-T
MyVariant Identifiers: chr19:g.36341891C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850989C>T , CM000681.2:g.35850989C>T GRCh38
NC_000019.9:g.36341891C>T , CM000681.1:g.36341891C>T GRCh37
NC_000019.8:g.41033731C>T NCBI36
NG_013356.2:g.23299G>A , LRG_693:g.23299G>A
NG_051206.1:g.4355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.498G>A MANE Select ENSP00000368190.4:p.Lys166=
ENST00000353632.6:c.498G>A ENSP00000343634.5:p.Lys166=
ENST00000378910.9:c.498G>A ENSP00000368190.4:p.Lys166=
NM_004646.3:c.498G>A , LRG_693t1:c.498G>A NP_004637.1:p.Lys166=
NM_004646.4:c.498G>A MANE Select NP_004637.1:p.Lys166=
Search 100 bp 5'
Search 100 bp 3'