Canonical Allele Identifier: CA2333850286
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848477C= , CM000681.2:g.35848477C= GRCh38
NC_000019.9:g.36339379C= , CM000681.1:g.36339379C= GRCh37
NC_000019.8:g.41031219C= NCBI36
NG_013356.2:g.25811G= , LRG_693:g.25811G=
NG_051206.1:g.1843C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-80G= MANE Select ENSP00000368190.4:n.1171-80G=
ENST00000353632.6:c.1171-80G= ENSP00000343634.5:n.1171-80G=
ENST00000378910.9:c.1171-80G= ENSP00000368190.4:n.1171-80G=
ENST00000592132.1:n.178-80G=
NM_004646.3:c.1171-80G= , LRG_693t1:c.1171-80G= NP_004637.1:n.1171-80G=
NM_004646.4:c.1171-80G= MANE Select NP_004637.1:n.1171-80G=