Canonical Allele Identifier: CA9390241
Gene: NPHS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35844249G>T
GRCh37 chr19:g.36335151G>T
gnomAD v2:
19:36335151 G / T
gnomAD v3:
19:35844249 G / T
gnomAD v4:
chr19-35844249-G-T
Joint Max Group AF 0.00063325 (SAS)
Genomes Max Group AF 0.00007279 (SAS)
Exomes Max Group AF 0.00064802 (SAS)
ClinVar RCV:
RCV001502521
ClinVar Variation:
1158930
dbSNP:
200253809
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35844249G>T , CM000681.2:g.35844249G>T GRCh38
NC_000019.9:g.36335151G>T , CM000681.1:g.36335151G>T GRCh37
NC_000019.8:g.41026991G>T NCBI36
NG_013356.2:g.30039C>A , LRG_693:g.30039C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2072-6C>A MANE Select ENSP00000368190.4:n.2072-6C>A
ENST00000353632.6:c.2072-6C>A ENSP00000343634.5:n.2072-6C>A
ENST00000378910.9:c.2072-6C>A ENSP00000368190.4:n.2072-6C>A
ENST00000585400.1:n.254-6C>A
NM_004646.3:c.2072-6C>A , LRG_693t1:c.2072-6C>A NP_004637.1:n.2072-6C>A
NM_004646.4:c.2072-6C>A MANE Select NP_004637.1:n.2072-6C>A
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