Canonical Allele Identifier: CA9390367

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 328869
• ClinVar RCV Id: RCV000366917 ; RCV000588114 ; RCV001277291
• dbSNP Id: rs115444936
• ExAC: 19:36336690 A / C
• gnomAD v2: 19-36336690-A-C
• gnomAD v3: 19-35845788-A-C
• gnomAD v4: 19-35845788-A-C
• MyVariant Identifiers: chr19:g.36336690A>C (hg19) ; chr19:g.35845788A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845788A>C , CM000681.2:g.35845788A>C	GRCh38
NC_000019.9:g.36336690A>C , CM000681.1:g.36336690A>C	GRCh37
NC_000019.8:g.41028530A>C	NCBI36
NG_013356.2:g.28500T>G , LRG_693:g.28500T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.1638T>G MANE Select	ENSP00000368190.4:p.Thr546=
ENST00000353632.6:c.1638T>G	ENSP00000343634.5:p.Thr546=
ENST00000378910.9:c.1638T>G	ENSP00000368190.4:p.Thr546=
NM_004646.3:c.1638T>G , LRG_693t1:c.1638T>G	NP_004637.1:p.Thr546=
NM_004646.4:c.1638T>G MANE Select	NP_004637.1:p.Thr546=