Canonical Allele Identifier: CA507082908
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35846036-G-T
MyVariant Identifiers: chr19:g.36336938G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846036G>T , CM000681.2:g.35846036G>T GRCh38
NC_000019.9:g.36336938G>T , CM000681.1:g.36336938G>T GRCh37
NC_000019.8:g.41028778G>T NCBI36
NG_013356.2:g.28252C>A , LRG_693:g.28252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1599C>A MANE Select ENSP00000368190.4:p.Leu533=
ENST00000353632.6:c.1599C>A ENSP00000343634.5:p.Leu533=
ENST00000378910.9:c.1599C>A ENSP00000368190.4:p.Leu533=
NM_004646.3:c.1599C>A , LRG_693t1:c.1599C>A NP_004637.1:p.Leu533=
NM_004646.4:c.1599C>A MANE Select NP_004637.1:p.Leu533=
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