Canonical Allele Identifier: CA343567387

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673955339
• MyVariant Identifiers: chr1:g.179526167C>T (hg19) ; chr1:g.179557032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557032C>T , CM000663.2:g.179557032C>T	GRCh38
NC_000001.10:g.179526167C>T , CM000663.1:g.179526167C>T	GRCh37
NC_000001.9:g.177792790C>T	NCBI36
NG_007535.1:g.23918G>A , LRG_887:g.23918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.733G>A MANE Select	ENSP00000356587.4:p.Ala245Thr
ENST00000367615.8:c.733G>A	ENSP00000356587.4:p.Ala245Thr
ENST00000367616.4:c.535-2501G>A	ENSP00000356588.4:n.535-2501G>A
NM_001297575.1:c.535-2501G>A	NP_001284504.1:n.535-2501G>A
NM_014625.3:c.733G>A , LRG_887t1:c.733G>A	NP_055440.1:p.Ala245Thr
XM_005245483.2:c.556G>A	XP_005245540.1:p.Ala186Thr
XM_006711529.2:c.733G>A	XP_006711592.1:p.Ala245Thr
XM_005245483.3:c.556G>A	XP_005245540.1:p.Ala186Thr
XM_017002298.1:c.461+2647G>A	XP_016857787.1:n.461+2647G>A
XM_017002299.1:c.534+2647G>A	XP_016857788.1:n.534+2647G>A
NM_001297575.2:c.535-2501G>A	NP_001284504.1:n.535-2501G>A
NM_014625.4:c.733G>A MANE Select	NP_055440.1:p.Ala245Thr