Canonical Allele Identifier: CA405405450
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 930198
ClinVar RCV Id: RCV001195708 RCV003142123
dbSNP Id: rs1973174583
MyVariant Identifiers: chr19:g.36339230T>C (hg19) chr19:g.35848328T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848328T>C , CM000681.2:g.35848328T>C GRCh38
NC_000019.9:g.36339230T>C , CM000681.1:g.36339230T>C GRCh37
NC_000019.8:g.41031070T>C NCBI36
NG_013356.2:g.25960A>G , LRG_693:g.25960A>G
NG_051206.1:g.1694T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1240A>G MANE Select ENSP00000368190.4:p.Thr414Ala
ENST00000353632.6:c.1240A>G ENSP00000343634.5:p.Thr414Ala
ENST00000378910.9:c.1240A>G ENSP00000368190.4:p.Thr414Ala
ENST00000592132.1:n.247A>G
NM_004646.3:c.1240A>G , LRG_693t1:c.1240A>G NP_004637.1:p.Thr414Ala
NM_004646.4:c.1240A>G MANE Select NP_004637.1:p.Thr414Ala
Search 100 bp 5'
Search 100 bp 3'