Canonical Allele Identifier: CA2333850213
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848399T= , CM000681.2:g.35848399T= GRCh38
NC_000019.9:g.36339301T= , CM000681.1:g.36339301T= GRCh37
NC_000019.8:g.41031141T= NCBI36
NG_013356.2:g.25889A= , LRG_693:g.25889A=
NG_051206.1:g.1765T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-2A= MANE Select ENSP00000368190.4:n.1171-2A=
ENST00000353632.6:c.1171-2A= ENSP00000343634.5:n.1171-2A=
ENST00000378910.9:c.1171-2A= ENSP00000368190.4:n.1171-2A=
ENST00000592132.1:n.178-2A=
NM_004646.3:c.1171-2A= , LRG_693t1:c.1171-2A= NP_004637.1:n.1171-2A=
NM_004646.4:c.1171-2A= MANE Select NP_004637.1:n.1171-2A=
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