Canonical Allele Identifier: CA9390657
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048848
dbSNP Id: rs34982899

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849285G>T , CM000681.2:g.35849285G>T GRCh38
NC_000019.9:g.36340187G>T , CM000681.1:g.36340187G>T GRCh37
NC_000019.8:g.41032027G>T NCBI36
NG_013356.2:g.25003C>A , LRG_693:g.25003C>A
NG_051206.1:g.2651G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.791C>A MANE Select ENSP00000368190.4:p.Pro264Gln
ENST00000353632.6:c.791C>A ENSP00000343634.5:p.Pro264Gln
ENST00000378910.9:c.791C>A ENSP00000368190.4:p.Pro264Gln
NM_004646.3:c.791C>A , LRG_693t1:c.791C>A NP_004637.1:p.Pro264Gln
NM_004646.4:c.791C>A MANE Select NP_004637.1:p.Pro264Gln