Canonical Allele Identifier: CA405409713
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36341877A>C (hg19) chr19:g.35850975A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850975A>C , CM000681.2:g.35850975A>C GRCh38
NC_000019.9:g.36341877A>C , CM000681.1:g.36341877A>C GRCh37
NC_000019.8:g.41033717A>C NCBI36
NG_013356.2:g.23313T>G , LRG_693:g.23313T>G
NG_051206.1:g.4341A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.512T>G MANE Select ENSP00000368190.4:p.Ile171Ser
ENST00000353632.6:c.512T>G ENSP00000343634.5:p.Ile171Ser
ENST00000378910.9:c.512T>G ENSP00000368190.4:p.Ile171Ser
NM_004646.3:c.512T>G , LRG_693t1:c.512T>G NP_004637.1:p.Ile171Ser
NM_004646.4:c.512T>G MANE Select NP_004637.1:p.Ile171Ser
Search 100 bp 5'
Search 100 bp 3'