Canonical Allele Identifier: CA405403566
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848051A>C , CM000681.2:g.35848051A>C GRCh38
NC_000019.9:g.36338953A>C , CM000681.1:g.36338953A>C GRCh37
NC_000019.8:g.41030793A>C NCBI36
NG_013356.2:g.26237T>G , LRG_693:g.26237T>G
NG_051206.1:g.1417A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1430T>G MANE Select ENSP00000368190.4:p.Met477Arg
ENST00000353632.6:c.1430T>G ENSP00000343634.5:p.Met477Arg
ENST00000378910.9:c.1430T>G ENSP00000368190.4:p.Met477Arg
ENST00000592132.1:n.437T>G
NM_004646.3:c.1430T>G , LRG_693t1:c.1430T>G NP_004637.1:p.Met477Arg
NM_004646.4:c.1430T>G MANE Select NP_004637.1:p.Met477Arg