Canonical Allele Identifier: CA9390034

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259491
• ClinVar RCV Id: RCV000242719 ; RCV000883305 ; RCV001127648 ; RCV000665537 ; RCV002294142 ; RCV003891928
• dbSNP Id: rs138173172
• ExAC: 19:36332686 C / A
• gnomAD v2: 19-36332686-C-A
• gnomAD v3: 19-35841784-C-A
• gnomAD v4: 19-35841784-C-A
• MyVariant Identifiers: chr19:g.36332686C>A (hg19) ; chr19:g.35841784C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841784C>A , CM000681.2:g.35841784C>A	GRCh38
NC_000019.9:g.36332686C>A , CM000681.1:g.36332686C>A	GRCh37
NC_000019.8:g.41024526C>A	NCBI36
NG_013356.2:g.32504G>T , LRG_693:g.32504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2746G>T MANE Select	ENSP00000368190.4:p.Ala916Ser
ENST00000353632.6:c.2746G>T	ENSP00000343634.5:p.Ala916Ser
ENST00000378910.9:c.2746G>T	ENSP00000368190.4:p.Ala916Ser
NM_004646.3:c.2746G>T , LRG_693t1:c.2746G>T	NP_004637.1:p.Ala916Ser
NM_004646.4:c.2746G>T MANE Select	NP_004637.1:p.Ala916Ser