Canonical Allele Identifier: CA2333849927
Gene: NPHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848164A= , CM000681.2:g.35848164A= GRCh38
NC_000019.9:g.36339066A= , CM000681.1:g.36339066A= GRCh37
NC_000019.8:g.41030906A= NCBI36
NG_013356.2:g.26124T= , LRG_693:g.26124T=
NG_051206.1:g.1530A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1317T= MANE Select ENSP00000368190.4:p.Tyr439=
ENST00000353632.6:c.1317T= ENSP00000343634.5:p.Tyr439=
ENST00000378910.9:c.1317T= ENSP00000368190.4:p.Tyr439=
ENST00000592132.1:n.324T=
NM_004646.3:c.1317T= , LRG_693t1:c.1317T= NP_004637.1:p.Tyr439=
NM_004646.4:c.1317T= MANE Select NP_004637.1:p.Tyr439=