Canonical Allele Identifier: CA507091291
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1551796
ClinVar RCV Id: RCV002184611
dbSNP Id: rs2146803225
gnomAD v4: 19-35826547-A-G
MyVariant Identifiers: chr19:g.36317449A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826547A>G , CM000681.2:g.35826547A>G GRCh38
NC_000019.9:g.36317449A>G , CM000681.1:g.36317449A>G GRCh37
NC_000019.8:g.41009289A>G NCBI36
NG_013356.2:g.47741T>C , LRG_693:g.47741T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3693T>C MANE Select ENSP00000368190.4:p.Ser1231=
ENST00000353632.6:c.3573T>C ENSP00000343634.5:p.Ser1191=
ENST00000378910.9:c.3693T>C ENSP00000368190.4:p.Ser1231=
NM_004646.3:c.3693T>C , LRG_693t1:c.3693T>C NP_004637.1:p.Ser1231=
NM_004646.4:c.3693T>C MANE Select NP_004637.1:p.Ser1231=
Search 100 bp 5'
Search 100 bp 3'