Canonical Allele Identifier: CA405406150
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36339549G>T (hg19) chr19:g.35848647G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848647G>T , CM000681.2:g.35848647G>T GRCh38
NC_000019.9:g.36339549G>T , CM000681.1:g.36339549G>T GRCh37
NC_000019.8:g.41031389G>T NCBI36
NG_013356.2:g.25641C>A , LRG_693:g.25641C>A
NG_051206.1:g.2013G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1160C>A MANE Select ENSP00000368190.4:p.Thr387Lys
ENST00000353632.6:c.1160C>A ENSP00000343634.5:p.Thr387Lys
ENST00000378910.9:c.1160C>A ENSP00000368190.4:p.Thr387Lys
ENST00000592132.1:n.167C>A
NM_004646.3:c.1160C>A , LRG_693t1:c.1160C>A NP_004637.1:p.Thr387Lys
NM_004646.4:c.1160C>A MANE Select NP_004637.1:p.Thr387Lys
Search 100 bp 5'
Search 100 bp 3'