Canonical Allele Identifier: CA507314089
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1999220
ClinVar RCV Id: RCV002797074
dbSNP Id: rs1183491373
gnomAD v2: 19-36330406-G-A
MyVariant Identifiers: chr19:g.36330406G>A (hg19) chr19:g.35839504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35839504G>A , CM000681.2:g.35839504G>A GRCh38
NC_000019.9:g.36330406G>A , CM000681.1:g.36330406G>A GRCh37
NC_000019.8:g.41022246G>A NCBI36
NG_013356.2:g.34784C>T , LRG_693:g.34784C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.2919C>T MANE Select ENSP00000368190.4:p.Phe973=
ENST00000353632.6:c.2919C>T ENSP00000343634.5:p.Phe973=
ENST00000378910.9:c.2919C>T ENSP00000368190.4:p.Phe973=
NM_004646.3:c.2919C>T , LRG_693t1:c.2919C>T NP_004637.1:p.Phe973=
NM_004646.4:c.2919C>T MANE Select NP_004637.1:p.Phe973=
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