Canonical Allele Identifier: CA307788975

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 1942250
• ClinVar RCV Id: RCV002653759
• dbSNP Id: rs375056692
• gnomAD v2: 19-36340464-C-T
• gnomAD v3: 19-35849562-C-T
• gnomAD v4: 19-35849562-C-T
• MyVariant Identifiers: chr19:g.36340464C>T (hg19) ; chr19:g.35849562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849562C>T , CM000681.2:g.35849562C>T	GRCh38
NC_000019.9:g.36340464C>T , CM000681.1:g.36340464C>T	GRCh37
NC_000019.8:g.41032304C>T	NCBI36
NG_013356.2:g.24726G>A , LRG_693:g.24726G>A
NG_051206.1:g.2928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.700G>A MANE Select	ENSP00000368190.4:p.Val234Met
ENST00000353632.6:c.700G>A	ENSP00000343634.5:p.Val234Met
ENST00000378910.9:c.700G>A	ENSP00000368190.4:p.Val234Met
NM_004646.3:c.700G>A , LRG_693t1:c.700G>A	NP_004637.1:p.Val234Met
NM_004646.4:c.700G>A MANE Select	NP_004637.1:p.Val234Met