Canonical Allele Identifier: CA343566505

Gene: NPHS2 AXDND1

Linked Data

• MyVariant Identifiers: chr1:g.179523654A>T (hg19) ; chr1:g.179554519A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554519A>T , CM000663.2:g.179554519A>T	GRCh38
NC_000001.10:g.179523654A>T , CM000663.1:g.179523654A>T	GRCh37
NC_000001.9:g.177790277A>T	NCBI36
NG_007535.1:g.26431T>A , LRG_887:g.26431T>A
NG_033075.1:g.193800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.751T>A (NPHS2) MANE Select	ENSP00000356587.4:p.Ser251Thr
ENST00000367618.8:c.3039A>T (AXDND1) MANE Select	ENSP00000356590.3:p.Ter1013Cys
ENST00000367615.8:c.751T>A (NPHS2)	ENSP00000356587.4:p.Ser251Thr
ENST00000367616.4:c.547T>A (NPHS2)	ENSP00000356588.4:p.Ser183Thr
ENST00000367618.7:c.3039A>T (AXDND1)	ENSP00000356590.3:p.Ter1013Cys
ENST00000434088.1:c.2619A>T (AXDND1)	ENSP00000391716.1:p.Ter873Cys
ENST00000457238.6:c.*1018A>T (AXDND1)	ENSP00000416712.3:n.*1018A>T
ENST00000484455.1:n.478A>T (AXDND1)
ENST00000484883.1:n.918A>T (AXDND1)
ENST00000489080.1:n.1643A>T (AXDND1)
ENST00000511157.5:c.*1308A>T (AXDND1)	ENSP00000424373.1:n.*1308A>T
ENST00000617277.4:c.*1214A>T (AXDND1)	ENSP00000482167.1:n.*1214A>T
NM_001297575.1:c.547T>A (NPHS2)	NP_001284504.1:p.Ser183Thr
NM_014625.3:c.751T>A , LRG_887t1:c.751T>A (NPHS2)	NP_055440.1:p.Ser251Thr
NM_144696.5:c.3039A>T (AXDND1)	NP_653297.3:p.Ter1013Cys
NR_073544.1:n.3159A>T (AXDND1)
XM_005245483.2:c.574T>A (NPHS2)	XP_005245540.1:p.Ser192Thr
XM_006711529.2:c.751T>A (NPHS2)	XP_006711592.1:p.Ser251Thr
XM_011509165.1:c.3045A>T (AXDND1)	XP_011507467.1:p.Ter1015Cys
XM_011509166.1:c.3045A>T (AXDND1)	XP_011507468.1:p.Ter1015Cys
XM_011509167.1:c.3045A>T (AXDND1)	XP_011507469.1:p.Ter1015Cys
XM_011509168.1:c.3045A>T (AXDND1)	XP_011507470.1:p.Ter1015Cys
XM_011509169.1:c.2982A>T (AXDND1)	XP_011507471.1:p.Ter994Cys
XM_011509170.1:c.2937A>T (AXDND1)	XP_011507472.1:p.Ter979Cys
XM_011509171.1:c.2919A>T (AXDND1)	XP_011507473.1:p.Ter973Cys
XM_011509172.1:c.2919A>T (AXDND1)	XP_011507474.1:p.Ter973Cys
XM_011509173.1:c.2919A>T (AXDND1)	XP_011507475.1:p.Ter973Cys
XM_011509174.1:c.2823A>T (AXDND1)	XP_011507476.1:p.Ter941Cys
XM_011509175.1:c.2817A>T (AXDND1)	XP_011507477.1:p.Ter939Cys
XM_011509176.1:c.2748A>T (AXDND1)	XP_011507478.1:p.Ter916Cys
XM_011509179.1:c.2409A>T (AXDND1)	XP_011507481.1:p.Ter803Cys
XM_011509181.1:c.1968A>T (AXDND1)	XP_011507483.1:p.Ter656Cys
XM_005245483.3:c.574T>A (NPHS2)	XP_005245540.1:p.Ser192Thr
XM_011509166.3:c.3045A>T (AXDND1)	XP_011507468.1:p.Ter1015Cys
XM_011509167.3:c.3045A>T (AXDND1)	XP_011507469.1:p.Ter1015Cys
XM_011509179.2:c.2409A>T (AXDND1)	XP_011507481.1:p.Ter803Cys
XM_011509181.2:c.1968A>T (AXDND1)	XP_011507483.1:p.Ter656Cys
XM_017000257.2:c.2304A>T (AXDND1)	XP_016855746.1:p.Ter768Cys
XM_017000258.2:c.2166A>T (AXDND1)	XP_016855747.1:p.Ter722Cys
XM_017002298.1:c.462-1838T>A (NPHS2)	XP_016857787.1:n.462-1838T>A
XM_017002299.1:c.535-1838T>A (NPHS2)	XP_016857788.1:n.535-1838T>A
XM_024453104.1:c.2919A>T (AXDND1)	XP_024308872.1:p.Ter973Cys
XM_024453107.1:c.2919A>T (AXDND1)	XP_024308875.1:p.Ter973Cys
NM_144696.6:c.3039A>T (AXDND1) MANE Select	NP_653297.3:p.Ter1013Cys
NM_001297575.2:c.547T>A (NPHS2)	NP_001284504.1:p.Ser183Thr
NM_014625.4:c.751T>A (NPHS2) MANE Select	NP_055440.1:p.Ser251Thr
NR_073544.2:n.3087A>T (AXDND1)