Canonical Allele Identifier: CA405407009
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849245C>A , CM000681.2:g.35849245C>A GRCh38
NC_000019.9:g.36340147C>A , CM000681.1:g.36340147C>A GRCh37
NC_000019.8:g.41031987C>A NCBI36
NG_013356.2:g.25043G>T , LRG_693:g.25043G>T
NG_051206.1:g.2611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.831G>T MANE Select ENSP00000368190.4:p.Gln277His
ENST00000353632.6:c.831G>T ENSP00000343634.5:p.Gln277His
ENST00000378910.9:c.831G>T ENSP00000368190.4:p.Gln277His
NM_004646.3:c.831G>T , LRG_693t1:c.831G>T NP_004637.1:p.Gln277His
NM_004646.4:c.831G>T MANE Select NP_004637.1:p.Gln277His