Canonical Allele Identifier: CA405409705
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1220401447
gnomAD v2: 19-36341875-T-C
MyVariant Identifiers: chr19:g.36341875T>C (hg19) chr19:g.35850973T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850973T>C , CM000681.2:g.35850973T>C GRCh38
NC_000019.9:g.36341875T>C , CM000681.1:g.36341875T>C GRCh37
NC_000019.8:g.41033715T>C NCBI36
NG_013356.2:g.23315A>G , LRG_693:g.23315A>G
NG_051206.1:g.4339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.514A>G MANE Select ENSP00000368190.4:p.Thr172Ala
ENST00000353632.6:c.514A>G ENSP00000343634.5:p.Thr172Ala
ENST00000378910.9:c.514A>G ENSP00000368190.4:p.Thr172Ala
NM_004646.3:c.514A>G , LRG_693t1:c.514A>G NP_004637.1:p.Thr172Ala
NM_004646.4:c.514A>G MANE Select NP_004637.1:p.Thr172Ala
Search 100 bp 5'
Search 100 bp 3'