Canonical Allele Identifier: CA250237

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56505
• ClinVar RCV Id: RCV000049918 ; RCV001390971
• dbSNP Id: rs386833943
• gnomAD v4: 19-35851019-G-C
• MyVariant Identifiers: chr19:g.36341921G>C (hg19) ; chr19:g.35851019G>C (hg38)
• PubMed: PMID:11317351 ; PMID:15338398 ; PMID:18614772 ; PMID:19406966 ; PMID:25407002 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851019G>C , CM000681.2:g.35851019G>C	GRCh38
NC_000019.9:g.36341921G>C , CM000681.1:g.36341921G>C	GRCh37
NC_000019.8:g.41033761G>C	NCBI36
NG_013356.2:g.23269C>G , LRG_693:g.23269C>G
NG_051206.1:g.4385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.468C>G MANE Select	ENSP00000368190.4:p.Tyr156Ter
ENST00000353632.6:c.468C>G	ENSP00000343634.5:p.Tyr156Ter
ENST00000378910.9:c.468C>G	ENSP00000368190.4:p.Tyr156Ter
NM_004646.3:c.468C>G , LRG_693t1:c.468C>G	NP_004637.1:p.Tyr156Ter
NM_004646.4:c.468C>G MANE Select	NP_004637.1:p.Tyr156Ter