Canonical Allele Identifier: CA9389985
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs779069798
ExAC: 19:36330416 G / A
gnomAD v2: 19-36330416-G-A
gnomAD v4: 19-35839514-G-A
MyVariant Identifiers: chr19:g.36330416G>A (hg19) chr19:g.35839514G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35839514G>A , CM000681.2:g.35839514G>A GRCh38
NC_000019.9:g.36330416G>A , CM000681.1:g.36330416G>A GRCh37
NC_000019.8:g.41022256G>A NCBI36
NG_013356.2:g.34774C>T , LRG_693:g.34774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2909C>T MANE Select ENSP00000368190.4:p.Pro970Leu
ENST00000353632.6:c.2909C>T ENSP00000343634.5:p.Pro970Leu
ENST00000378910.9:c.2909C>T ENSP00000368190.4:p.Pro970Leu
NM_004646.3:c.2909C>T , LRG_693t1:c.2909C>T NP_004637.1:p.Pro970Leu
NM_004646.4:c.2909C>T MANE Select NP_004637.1:p.Pro970Leu
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