Canonical Allele Identifier: CA405416297
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36322024A>C (hg19) chr19:g.35831122A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35831122A>C , CM000681.2:g.35831122A>C GRCh38
NC_000019.9:g.36322024A>C , CM000681.1:g.36322024A>C GRCh37
NC_000019.8:g.41013864A>C NCBI36
NG_013356.2:g.43166T>G , LRG_693:g.43166T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3412T>G MANE Select ENSP00000368190.4:p.Tyr1138Asp
ENST00000353632.6:c.3292T>G ENSP00000343634.5:p.Tyr1098Asp
ENST00000378910.9:c.3412T>G ENSP00000368190.4:p.Tyr1138Asp
NM_004646.3:c.3412T>G , LRG_693t1:c.3412T>G NP_004637.1:p.Tyr1138Asp
NM_004646.4:c.3412T>G MANE Select NP_004637.1:p.Tyr1138Asp
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