Canonical Allele Identifier: CA9390141
Gene: NPHS1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35842480C>T
GRCh37 chr19:g.36333382C>T
Revel Score:
ENST00000378910 (MANE Select) 0.054
ENST00000353632 0.054
gnomAD v2:
19:36333382 C / T
gnomAD v3:
19:35842480 C / T
gnomAD v4:
chr19-35842480-C-T
Joint Max Group AF 0.00063706 (AFR)
Genomes Max Group AF 0.00055973 (AFR)
Exomes Max Group AF 0.00059387 (AFR)
ClinVar Allele:
918513
ClinVar RCV:
RCV001195709
RCV002560207
RCV003132258
ClinVar Variation:
930199
dbSNP:
114203578
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842480C>T , CM000681.2:g.35842480C>T GRCh38
NC_000019.9:g.36333382C>T , CM000681.1:g.36333382C>T GRCh37
NC_000019.8:g.41025222C>T NCBI36
NG_013356.2:g.31808G>A , LRG_693:g.31808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2405G>A MANE Select ENSP00000368190.4:p.Arg802Gln
ENST00000353632.6:c.2405G>A ENSP00000343634.5:p.Arg802Gln
ENST00000378910.9:c.2405G>A ENSP00000368190.4:p.Arg802Gln
NM_004646.3:c.2405G>A , LRG_693t1:c.2405G>A NP_004637.1:p.Arg802Gln
NM_004646.4:c.2405G>A MANE Select NP_004637.1:p.Arg802Gln
Search 100 bp 5'
Search 100 bp 3'