Canonical Allele Identifier: CA2582125009
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2146819562
gnomAD v3: 19-35842304-A-G
gnomAD v4: 19-35842304-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842304A>G , CM000681.2:g.35842304A>G GRCh38
NC_000019.9:g.36333206A>G , CM000681.1:g.36333206A>G GRCh37
NC_000019.8:g.41025046A>G NCBI36
NG_013356.2:g.31984T>C , LRG_693:g.31984T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2507-24T>C MANE Select ENSP00000368190.4:n.2507-24T>C
ENST00000353632.6:c.2507-24T>C ENSP00000343634.5:n.2507-24T>C
ENST00000378910.9:c.2507-24T>C ENSP00000368190.4:n.2507-24T>C
NM_004646.3:c.2507-24T>C , LRG_693t1:c.2507-24T>C NP_004637.1:n.2507-24T>C
NM_004646.4:c.2507-24T>C MANE Select NP_004637.1:n.2507-24T>C
Search 100 bp 5'
Search 100 bp 3'