Canonical Allele Identifier: CA995487728
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973234441
gnomAD v3: 19-35850875-T-C
gnomAD v4: 19-35850875-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850875T>C , CM000681.2:g.35850875T>C GRCh38
NC_000019.9:g.36341777T>C , CM000681.1:g.36341777T>C GRCh37
NC_000019.8:g.41033617T>C NCBI36
NG_013356.2:g.23413A>G , LRG_693:g.23413A>G
NG_051206.1:g.4241T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.526+86A>G MANE Select ENSP00000368190.4:n.526+86A>G
ENST00000353632.6:c.526+86A>G ENSP00000343634.5:n.526+86A>G
ENST00000378910.9:c.526+86A>G ENSP00000368190.4:n.526+86A>G
NM_004646.3:c.526+86A>G , LRG_693t1:c.526+86A>G NP_004637.1:n.526+86A>G
NM_004646.4:c.526+86A>G MANE Select NP_004637.1:n.526+86A>G
Search 100 bp 5'
Search 100 bp 3'