Canonical Allele Identifier: CA1267132

Gene: NPHS2 AXDND1

Linked Data

• ClinVar Variation Id: 447882
• ClinVar RCV Id: RCV001273612
• dbSNP Id: rs775006954
• ExAC: 1:179523626 A / T
• gnomAD v2: 1-179523626-A-T
• gnomAD v3: 1-179554491-A-T
• gnomAD v4: 1-179554491-A-T
• MyVariant Identifiers: chr1:g.179523626A>T (hg19) ; chr1:g.179554491A>T (hg38)
• PubMed: PMID:14675423 ; PMID:15253708 ; PMID:20507940 ; PMID:20947785 ; PMID:21415313 ; PMID:22565185 ; PMID:23595123 ; PMID:25349199 ; PMID:26420286 ; PMID:26594346

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554491A>T , CM000663.2:g.179554491A>T	GRCh38
NC_000001.10:g.179523626A>T , CM000663.1:g.179523626A>T	GRCh37
NC_000001.9:g.177790249A>T	NCBI36
NG_007535.1:g.26459T>A , LRG_887:g.26459T>A
NG_033075.1:g.193772A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.779T>A (NPHS2) MANE Select	ENSP00000356587.4:p.Val260Glu
ENST00000367618.8:c.3032-21A>T (AXDND1) MANE Select	ENSP00000356590.3:n.3032-21A>T
ENST00000367615.8:c.779T>A (NPHS2)	ENSP00000356587.4:p.Val260Glu
ENST00000367616.4:c.575T>A (NPHS2)	ENSP00000356588.4:p.Val192Glu
ENST00000367618.7:c.3032-21A>T (AXDND1)	ENSP00000356590.3:n.3032-21A>T
ENST00000434088.1:c.2612-21A>T (AXDND1)	ENSP00000391716.1:n.2612-21A>T
ENST00000457238.6:c.*1011-21A>T (AXDND1)	ENSP00000416712.3:n.*1011-21A>T
ENST00000484455.1:n.471-21A>T (AXDND1)
ENST00000484883.1:n.911-21A>T (AXDND1)
ENST00000489080.1:n.1636-21A>T (AXDND1)
ENST00000511157.5:c.*1301-21A>T (AXDND1)	ENSP00000424373.1:n.*1301-21A>T
ENST00000617277.4:c.*1207-21A>T (AXDND1)	ENSP00000482167.1:n.*1207-21A>T
NM_001297575.1:c.575T>A (NPHS2)	NP_001284504.1:p.Val192Glu
NM_014625.3:c.779T>A , LRG_887t1:c.779T>A (NPHS2)	NP_055440.1:p.Val260Glu
NM_144696.5:c.3032-21A>T (AXDND1)	NP_653297.3:n.3032-21A>T
NR_073544.1:n.3152-21A>T (AXDND1)
XM_005245483.2:c.602T>A (NPHS2)	XP_005245540.1:p.Val201Glu
XM_006711529.2:c.779T>A (NPHS2)	XP_006711592.1:p.Val260Glu
XM_011509165.1:c.3038-21A>T (AXDND1)	XP_011507467.1:n.3038-21A>T
XM_011509166.1:c.3038-21A>T (AXDND1)	XP_011507468.1:n.3038-21A>T
XM_011509167.1:c.3038-21A>T (AXDND1)	XP_011507469.1:n.3038-21A>T
XM_011509168.1:c.3038-21A>T (AXDND1)	XP_011507470.1:n.3038-21A>T
XM_011509169.1:c.2975-21A>T (AXDND1)	XP_011507471.1:n.2975-21A>T
XM_011509170.1:c.2930-21A>T (AXDND1)	XP_011507472.1:n.2930-21A>T
XM_011509171.1:c.2912-21A>T (AXDND1)	XP_011507473.1:n.2912-21A>T
XM_011509172.1:c.2912-21A>T (AXDND1)	XP_011507474.1:n.2912-21A>T
XM_011509173.1:c.2912-21A>T (AXDND1)	XP_011507475.1:n.2912-21A>T
XM_011509174.1:c.2816-21A>T (AXDND1)	XP_011507476.1:n.2816-21A>T
XM_011509175.1:c.2810-21A>T (AXDND1)	XP_011507477.1:n.2810-21A>T
XM_011509176.1:c.2741-21A>T (AXDND1)	XP_011507478.1:n.2741-21A>T
XM_011509179.1:c.2402-21A>T (AXDND1)	XP_011507481.1:n.2402-21A>T
XM_011509181.1:c.1961-21A>T (AXDND1)	XP_011507483.1:n.1961-21A>T
XM_005245483.3:c.602T>A (NPHS2)	XP_005245540.1:p.Val201Glu
XM_011509166.3:c.3038-21A>T (AXDND1)	XP_011507468.1:n.3038-21A>T
XM_011509167.3:c.3038-21A>T (AXDND1)	XP_011507469.1:n.3038-21A>T
XM_011509179.2:c.2402-21A>T (AXDND1)	XP_011507481.1:n.2402-21A>T
XM_011509181.2:c.1961-21A>T (AXDND1)	XP_011507483.1:n.1961-21A>T
XM_017000257.2:c.2297-21A>T (AXDND1)	XP_016855746.1:n.2297-21A>T
XM_017000258.2:c.2159-21A>T (AXDND1)	XP_016855747.1:n.2159-21A>T
XM_017002298.1:c.462-1810T>A (NPHS2)	XP_016857787.1:n.462-1810T>A
XM_017002299.1:c.535-1810T>A (NPHS2)	XP_016857788.1:n.535-1810T>A
XM_024453104.1:c.2912-21A>T (AXDND1)	XP_024308872.1:n.2912-21A>T
XM_024453107.1:c.2912-21A>T (AXDND1)	XP_024308875.1:n.2912-21A>T
NM_144696.6:c.3032-21A>T (AXDND1) MANE Select	NP_653297.3:n.3032-21A>T
NM_001297575.2:c.575T>A (NPHS2)	NP_001284504.1:p.Val192Glu
NM_014625.4:c.779T>A (NPHS2) MANE Select	NP_055440.1:p.Val260Glu
NR_073544.2:n.3080-21A>T (AXDND1)