Canonical Allele Identifier: CA405405123
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36339193T>A (hg19) chr19:g.35848291T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848291T>A , CM000681.2:g.35848291T>A GRCh38
NC_000019.9:g.36339193T>A , CM000681.1:g.36339193T>A GRCh37
NC_000019.8:g.41031033T>A NCBI36
NG_013356.2:g.25997A>T , LRG_693:g.25997A>T
NG_051206.1:g.1657T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1277A>T MANE Select ENSP00000368190.4:p.Lys426Met
ENST00000353632.6:c.1277A>T ENSP00000343634.5:p.Lys426Met
ENST00000378910.9:c.1277A>T ENSP00000368190.4:p.Lys426Met
ENST00000592132.1:n.284A>T
NM_004646.3:c.1277A>T , LRG_693t1:c.1277A>T NP_004637.1:p.Lys426Met
NM_004646.4:c.1277A>T MANE Select NP_004637.1:p.Lys426Met
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