Canonical Allele Identifier: CA9390651

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 724178
• ClinVar RCV Id: RCV000898050 ; RCV001125719 ; RCV001272296 ; RCV001796311 ; RCV002294410
• dbSNP Id: rs115308424
• ExAC: 19:36340175 C / T
• gnomAD v2: 19-36340175-C-T
• gnomAD v3: 19-35849273-C-T
• gnomAD v4: 19-35849273-C-T
• MyVariant Identifiers: chr19:g.36340175C>T (hg19) ; chr19:g.35849273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849273C>T , CM000681.2:g.35849273C>T	GRCh38
NC_000019.9:g.36340175C>T , CM000681.1:g.36340175C>T	GRCh37
NC_000019.8:g.41032015C>T	NCBI36
NG_013356.2:g.25015G>A , LRG_693:g.25015G>A
NG_051206.1:g.2639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.803G>A MANE Select	ENSP00000368190.4:p.Arg268Gln
ENST00000353632.6:c.803G>A	ENSP00000343634.5:p.Arg268Gln
ENST00000378910.9:c.803G>A	ENSP00000368190.4:p.Arg268Gln
NM_004646.3:c.803G>A , LRG_693t1:c.803G>A	NP_004637.1:p.Arg268Gln
NM_004646.4:c.803G>A MANE Select	NP_004637.1:p.Arg268Gln