Canonical Allele Identifier: CA2333849210
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845968T= , CM000681.2:g.35845968T= GRCh38
NC_000019.9:g.36336870T= , CM000681.1:g.36336870T= GRCh37
NC_000019.8:g.41028710T= NCBI36
NG_013356.2:g.28320A= , LRG_693:g.28320A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1627+40A= MANE Select ENSP00000368190.4:n.1627+40A=
ENST00000353632.6:c.1627+40A= ENSP00000343634.5:n.1627+40A=
ENST00000378910.9:c.1627+40A= ENSP00000368190.4:n.1627+40A=
NM_004646.3:c.1627+40A= , LRG_693t1:c.1627+40A= NP_004637.1:n.1627+40A=
NM_004646.4:c.1627+40A= MANE Select NP_004637.1:n.1627+40A=