Canonical Allele Identifier: CA9389754

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 392914
• ClinVar RCV Id: RCV000428437 ; RCV001277277 ; RCV001124538
• dbSNP Id: rs143145248
• ExAC: 19:36321981 G / A
• gnomAD v2: 19-36321981-G-A
• gnomAD v3: 19-35831079-G-A
• gnomAD v4: 19-35831079-G-A
• COSMIC: COSM1524676
• MyVariant Identifiers: chr19:g.36321981G>A (hg19) ; chr19:g.35831079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35831079G>A , CM000681.2:g.35831079G>A	GRCh38
NC_000019.9:g.36321981G>A , CM000681.1:g.36321981G>A	GRCh37
NC_000019.8:g.41013821G>A	NCBI36
NG_013356.2:g.43209C>T , LRG_693:g.43209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3455C>T MANE Select	ENSP00000368190.4:p.Thr1152Met
ENST00000353632.6:c.3335C>T	ENSP00000343634.5:p.Thr1112Met
ENST00000378910.9:c.3455C>T	ENSP00000368190.4:p.Thr1152Met
NM_004646.3:c.3455C>T , LRG_693t1:c.3455C>T	NP_004637.1:p.Thr1152Met
NM_004646.4:c.3455C>T MANE Select	NP_004637.1:p.Thr1152Met