Canonical Allele Identifier: CA995487735
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973234649
gnomAD v3: 19-35850883-G-A
gnomAD v4: 19-35850883-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850883G>A , CM000681.2:g.35850883G>A GRCh38
NC_000019.9:g.36341785G>A , CM000681.1:g.36341785G>A GRCh37
NC_000019.8:g.41033625G>A NCBI36
NG_013356.2:g.23405C>T , LRG_693:g.23405C>T
NG_051206.1:g.4249G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.526+78C>T MANE Select ENSP00000368190.4:n.526+78C>T
ENST00000353632.6:c.526+78C>T ENSP00000343634.5:n.526+78C>T
ENST00000378910.9:c.526+78C>T ENSP00000368190.4:n.526+78C>T
NM_004646.3:c.526+78C>T , LRG_693t1:c.526+78C>T NP_004637.1:n.526+78C>T
NM_004646.4:c.526+78C>T MANE Select NP_004637.1:n.526+78C>T
Search 100 bp 5'
Search 100 bp 3'