Canonical Allele Identifier: CA9389664
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889498
ClinVar RCV Id: RCV001123445
dbSNP Id: rs199961311
ExAC: 19:36317426 T / A
gnomAD v2: 19-36317426-T-A
gnomAD v3: 19-35826524-T-A
gnomAD v4: 19-35826524-T-A
MyVariant Identifiers: chr19:g.36317426T>A (hg19) chr19:g.35826524T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826524T>A , CM000681.2:g.35826524T>A GRCh38
NC_000019.9:g.36317426T>A , CM000681.1:g.36317426T>A GRCh37
NC_000019.8:g.41009266T>A NCBI36
NG_013356.2:g.47764A>T , LRG_693:g.47764A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3716A>T MANE Select ENSP00000368190.4:p.His1239Leu
ENST00000353632.6:c.3596A>T ENSP00000343634.5:p.His1199Leu
ENST00000378910.9:c.3716A>T ENSP00000368190.4:p.His1239Leu
NM_004646.3:c.3716A>T , LRG_693t1:c.3716A>T NP_004637.1:p.His1239Leu
NM_004646.4:c.3716A>T MANE Select NP_004637.1:p.His1239Leu
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