Canonical Allele Identifier: CA9390451
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs768870360
ExAC: 19:36339010 C / G
gnomAD v2: 19-36339010-C-G
gnomAD v4: 19-35848108-C-G
MyVariant Identifiers: chr19:g.36339010C>G (hg19) chr19:g.35848108C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848108C>G , CM000681.2:g.35848108C>G GRCh38
NC_000019.9:g.36339010C>G , CM000681.1:g.36339010C>G GRCh37
NC_000019.8:g.41030850C>G NCBI36
NG_013356.2:g.26180G>C , LRG_693:g.26180G>C
NG_051206.1:g.1474C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1373G>C MANE Select ENSP00000368190.4:p.Gly458Ala
ENST00000353632.6:c.1373G>C ENSP00000343634.5:p.Gly458Ala
ENST00000378910.9:c.1373G>C ENSP00000368190.4:p.Gly458Ala
ENST00000592132.1:n.380G>C
NM_004646.3:c.1373G>C , LRG_693t1:c.1373G>C NP_004637.1:p.Gly458Ala
NM_004646.4:c.1373G>C MANE Select NP_004637.1:p.Gly458Ala
Search 100 bp 5'
Search 100 bp 3'