Canonical Allele Identifier: CA405400119
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35846014-C-T
COSMIC: COSM6383232
MyVariant Identifiers: chr19:g.36336916C>T (hg19) chr19:g.35846014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846014C>T , CM000681.2:g.35846014C>T GRCh38
NC_000019.9:g.36336916C>T , CM000681.1:g.36336916C>T GRCh37
NC_000019.8:g.41028756C>T NCBI36
NG_013356.2:g.28274G>A , LRG_693:g.28274G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1621G>A MANE Select ENSP00000368190.4:p.Val541Met
ENST00000353632.6:c.1621G>A ENSP00000343634.5:p.Val541Met
ENST00000378910.9:c.1621G>A ENSP00000368190.4:p.Val541Met
NM_004646.3:c.1621G>A , LRG_693t1:c.1621G>A NP_004637.1:p.Val541Met
NM_004646.4:c.1621G>A MANE Select NP_004637.1:p.Val541Met
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