Canonical Allele Identifier: CA9390473
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs377591671
ExAC: 19:36339128 C / A
gnomAD v2: 19-36339128-C-A
gnomAD v3: 19-35848226-C-A
gnomAD v4: 19-35848226-C-A
MyVariant Identifiers: chr19:g.36339128C>A (hg19) chr19:g.35848226C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848226C>A , CM000681.2:g.35848226C>A GRCh38
NC_000019.9:g.36339128C>A , CM000681.1:g.36339128C>A GRCh37
NC_000019.8:g.41030968C>A NCBI36
NG_013356.2:g.26062G>T , LRG_693:g.26062G>T
NG_051206.1:g.1592C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1315+27G>T MANE Select ENSP00000368190.4:n.1315+27G>T
ENST00000353632.6:c.1315+27G>T ENSP00000343634.5:n.1315+27G>T
ENST00000378910.9:c.1315+27G>T ENSP00000368190.4:n.1315+27G>T
ENST00000592132.1:n.322+27G>T
NM_004646.3:c.1315+27G>T , LRG_693t1:c.1315+27G>T NP_004637.1:n.1315+27G>T
NM_004646.4:c.1315+27G>T MANE Select NP_004637.1:n.1315+27G>T
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