Canonical Allele Identifier: CA507314392
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1409252703
gnomAD v2: 19-36339933-G-T
gnomAD v4: 19-35849031-G-T
MyVariant Identifiers: chr19:g.36339933G>T (hg19) chr19:g.35849031G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849031G>T , CM000681.2:g.35849031G>T GRCh38
NC_000019.9:g.36339933G>T , CM000681.1:g.36339933G>T GRCh37
NC_000019.8:g.41031773G>T NCBI36
NG_013356.2:g.25257C>A , LRG_693:g.25257C>A
NG_051206.1:g.2397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.957C>A MANE Select ENSP00000368190.4:p.Ala319=
ENST00000353632.6:c.957C>A ENSP00000343634.5:p.Ala319=
ENST00000378910.9:c.957C>A ENSP00000368190.4:p.Ala319=
NM_004646.3:c.957C>A , LRG_693t1:c.957C>A NP_004637.1:p.Ala319=
NM_004646.4:c.957C>A MANE Select NP_004637.1:p.Ala319=
Search 100 bp 5'
Search 100 bp 3'