Canonical Allele Identifier: CA343566387

Gene: NPHS2 AXDND1

Linked Data

• COSMIC: COSM900282
• MyVariant Identifiers: chr1:g.179523627C>A (hg19) ; chr1:g.179554492C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554492C>A , CM000663.2:g.179554492C>A	GRCh38
NC_000001.10:g.179523627C>A , CM000663.1:g.179523627C>A	GRCh37
NC_000001.9:g.177790250C>A	NCBI36
NG_007535.1:g.26458G>T , LRG_887:g.26458G>T
NG_033075.1:g.193773C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.778G>T (NPHS2) MANE Select	ENSP00000356587.4:p.Val260Leu
ENST00000367618.8:c.3032-20C>A (AXDND1) MANE Select	ENSP00000356590.3:n.3032-20C>A
ENST00000367615.8:c.778G>T (NPHS2)	ENSP00000356587.4:p.Val260Leu
ENST00000367616.4:c.574G>T (NPHS2)	ENSP00000356588.4:p.Val192Leu
ENST00000367618.7:c.3032-20C>A (AXDND1)	ENSP00000356590.3:n.3032-20C>A
ENST00000434088.1:c.2612-20C>A (AXDND1)	ENSP00000391716.1:n.2612-20C>A
ENST00000457238.6:c.*1011-20C>A (AXDND1)	ENSP00000416712.3:n.*1011-20C>A
ENST00000484455.1:n.471-20C>A (AXDND1)
ENST00000484883.1:n.911-20C>A (AXDND1)
ENST00000489080.1:n.1636-20C>A (AXDND1)
ENST00000511157.5:c.*1301-20C>A (AXDND1)	ENSP00000424373.1:n.*1301-20C>A
ENST00000617277.4:c.*1207-20C>A (AXDND1)	ENSP00000482167.1:n.*1207-20C>A
NM_001297575.1:c.574G>T (NPHS2)	NP_001284504.1:p.Val192Leu
NM_014625.3:c.778G>T , LRG_887t1:c.778G>T (NPHS2)	NP_055440.1:p.Val260Leu
NM_144696.5:c.3032-20C>A (AXDND1)	NP_653297.3:n.3032-20C>A
NR_073544.1:n.3152-20C>A (AXDND1)
XM_005245483.2:c.601G>T (NPHS2)	XP_005245540.1:p.Val201Leu
XM_006711529.2:c.778G>T (NPHS2)	XP_006711592.1:p.Val260Leu
XM_011509165.1:c.3038-20C>A (AXDND1)	XP_011507467.1:n.3038-20C>A
XM_011509166.1:c.3038-20C>A (AXDND1)	XP_011507468.1:n.3038-20C>A
XM_011509167.1:c.3038-20C>A (AXDND1)	XP_011507469.1:n.3038-20C>A
XM_011509168.1:c.3038-20C>A (AXDND1)	XP_011507470.1:n.3038-20C>A
XM_011509169.1:c.2975-20C>A (AXDND1)	XP_011507471.1:n.2975-20C>A
XM_011509170.1:c.2930-20C>A (AXDND1)	XP_011507472.1:n.2930-20C>A
XM_011509171.1:c.2912-20C>A (AXDND1)	XP_011507473.1:n.2912-20C>A
XM_011509172.1:c.2912-20C>A (AXDND1)	XP_011507474.1:n.2912-20C>A
XM_011509173.1:c.2912-20C>A (AXDND1)	XP_011507475.1:n.2912-20C>A
XM_011509174.1:c.2816-20C>A (AXDND1)	XP_011507476.1:n.2816-20C>A
XM_011509175.1:c.2810-20C>A (AXDND1)	XP_011507477.1:n.2810-20C>A
XM_011509176.1:c.2741-20C>A (AXDND1)	XP_011507478.1:n.2741-20C>A
XM_011509179.1:c.2402-20C>A (AXDND1)	XP_011507481.1:n.2402-20C>A
XM_011509181.1:c.1961-20C>A (AXDND1)	XP_011507483.1:n.1961-20C>A
XM_005245483.3:c.601G>T (NPHS2)	XP_005245540.1:p.Val201Leu
XM_011509166.3:c.3038-20C>A (AXDND1)	XP_011507468.1:n.3038-20C>A
XM_011509167.3:c.3038-20C>A (AXDND1)	XP_011507469.1:n.3038-20C>A
XM_011509179.2:c.2402-20C>A (AXDND1)	XP_011507481.1:n.2402-20C>A
XM_011509181.2:c.1961-20C>A (AXDND1)	XP_011507483.1:n.1961-20C>A
XM_017000257.2:c.2297-20C>A (AXDND1)	XP_016855746.1:n.2297-20C>A
XM_017000258.2:c.2159-20C>A (AXDND1)	XP_016855747.1:n.2159-20C>A
XM_017002298.1:c.462-1811G>T (NPHS2)	XP_016857787.1:n.462-1811G>T
XM_017002299.1:c.535-1811G>T (NPHS2)	XP_016857788.1:n.535-1811G>T
XM_024453104.1:c.2912-20C>A (AXDND1)	XP_024308872.1:n.2912-20C>A
XM_024453107.1:c.2912-20C>A (AXDND1)	XP_024308875.1:n.2912-20C>A
NM_144696.6:c.3032-20C>A (AXDND1) MANE Select	NP_653297.3:n.3032-20C>A
NM_001297575.2:c.574G>T (NPHS2)	NP_001284504.1:p.Val192Leu
NM_014625.4:c.778G>T (NPHS2) MANE Select	NP_055440.1:p.Val260Leu
NR_073544.2:n.3080-20C>A (AXDND1)