Canonical Allele Identifier: CA2584604320
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850857A>C , CM000681.2:g.35850857A>C GRCh38
NC_000019.9:g.36341759A>C , CM000681.1:g.36341759A>C GRCh37
NC_000019.8:g.41033599A>C NCBI36
NG_013356.2:g.23431T>G , LRG_693:g.23431T>G
NG_051206.1:g.4223A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.526+104T>G MANE Select ENSP00000368190.4:n.526+104T>G
ENST00000353632.6:c.526+104T>G ENSP00000343634.5:n.526+104T>G
ENST00000378910.9:c.526+104T>G ENSP00000368190.4:n.526+104T>G
NM_004646.3:c.526+104T>G , LRG_693t1:c.526+104T>G NP_004637.1:n.526+104T>G
NM_004646.4:c.526+104T>G MANE Select NP_004637.1:n.526+104T>G