Canonical Allele Identifier: CA250042

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 6875
• ClinVar RCV Id: RCV000007278 ; RCV001851717
• dbSNP Id: rs267606918
• ExAC: 19:36333323 C / T
• gnomAD v2: 19-36333323-C-T
• gnomAD v3: 19-35842421-C-T
• gnomAD v4: 19-35842421-C-T
• MyVariant Identifiers: chr19:g.36333323C>T (hg19) ; chr19:g.35842421C>T (hg38)
• PubMed: PMID:17290294

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842421C>T , CM000681.2:g.35842421C>T	GRCh38
NC_000019.9:g.36333323C>T , CM000681.1:g.36333323C>T	GRCh37
NC_000019.8:g.41025163C>T	NCBI36
NG_013356.2:g.31867G>A , LRG_693:g.31867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2464G>A MANE Select	ENSP00000368190.4:p.Val822Met
ENST00000353632.6:c.2464G>A	ENSP00000343634.5:p.Val822Met
ENST00000378910.9:c.2464G>A	ENSP00000368190.4:p.Val822Met
NM_004646.3:c.2464G>A , LRG_693t1:c.2464G>A	NP_004637.1:p.Val822Met
NM_004646.4:c.2464G>A MANE Select	NP_004637.1:p.Val822Met