Canonical Allele Identifier: CA405407290
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36340248C>G (hg19) chr19:g.35849346C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849346C>G , CM000681.2:g.35849346C>G GRCh38
NC_000019.9:g.36340248C>G , CM000681.1:g.36340248C>G GRCh37
NC_000019.8:g.41032088C>G NCBI36
NG_013356.2:g.24942G>C , LRG_693:g.24942G>C
NG_051206.1:g.2712C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.730G>C MANE Select ENSP00000368190.4:p.Val244Leu
ENST00000353632.6:c.730G>C ENSP00000343634.5:p.Val244Leu
ENST00000378910.9:c.730G>C ENSP00000368190.4:p.Val244Leu
NM_004646.3:c.730G>C , LRG_693t1:c.730G>C NP_004637.1:p.Val244Leu
NM_004646.4:c.730G>C MANE Select NP_004637.1:p.Val244Leu
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