Canonical Allele Identifier: CA405415159
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826602G>C , CM000681.2:g.35826602G>C GRCh38
NC_000019.9:g.36317504G>C , CM000681.1:g.36317504G>C GRCh37
NC_000019.8:g.41009344G>C NCBI36
NG_013356.2:g.47686C>G , LRG_693:g.47686C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3638C>G MANE Select ENSP00000368190.4:p.Pro1213Arg
ENST00000353632.6:c.3518C>G ENSP00000343634.5:p.Pro1173Arg
ENST00000378910.9:c.3638C>G ENSP00000368190.4:p.Pro1213Arg
NM_004646.3:c.3638C>G , LRG_693t1:c.3638C>G NP_004637.1:p.Pro1213Arg
NM_004646.4:c.3638C>G MANE Select NP_004637.1:p.Pro1213Arg