Canonical Allele Identifier: CA2333851304
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973217849
gnomAD v4: 19-35850281-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850281C>T , CM000681.2:g.35850281C>T GRCh38
NC_000019.9:g.36341183C>T , CM000681.1:g.36341183C>T GRCh37
NC_000019.8:g.41033023C>T NCBI36
NG_013356.2:g.24007G>A , LRG_693:g.24007G>A
NG_051206.1:g.3647C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.608+83G>A MANE Select ENSP00000368190.4:n.608+83G>A
ENST00000353632.6:c.608+83G>A ENSP00000343634.5:n.608+83G>A
ENST00000378910.9:c.608+83G>A ENSP00000368190.4:n.608+83G>A
NM_004646.3:c.608+83G>A , LRG_693t1:c.608+83G>A NP_004637.1:n.608+83G>A
NM_004646.4:c.608+83G>A MANE Select NP_004637.1:n.608+83G>A
Search 100 bp 5'
Search 100 bp 3'