Canonical Allele Identifier: CA405407043
Gene: NPHS1 HGNC NCBI

Linked Data

COSMIC: COSM6150425
MyVariant Identifiers: chr19:g.36340164G>T (hg19) chr19:g.35849262G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849262G>T , CM000681.2:g.35849262G>T GRCh38
NC_000019.9:g.36340164G>T , CM000681.1:g.36340164G>T GRCh37
NC_000019.8:g.41032004G>T NCBI36
NG_013356.2:g.25026C>A , LRG_693:g.25026C>A
NG_051206.1:g.2628G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.814C>A MANE Select ENSP00000368190.4:p.Pro272Thr
ENST00000353632.6:c.814C>A ENSP00000343634.5:p.Pro272Thr
ENST00000378910.9:c.814C>A ENSP00000368190.4:p.Pro272Thr
NM_004646.3:c.814C>A , LRG_693t1:c.814C>A NP_004637.1:p.Pro272Thr
NM_004646.4:c.814C>A MANE Select NP_004637.1:p.Pro272Thr
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