Canonical Allele Identifier: CA343566493

Gene: NPHS2 AXDND1

Linked Data

• MyVariant Identifiers: chr1:g.179523650A>G (hg19) ; chr1:g.179554515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554515A>G , CM000663.2:g.179554515A>G	GRCh38
NC_000001.10:g.179523650A>G , CM000663.1:g.179523650A>G	GRCh37
NC_000001.9:g.177790273A>G	NCBI36
NG_007535.1:g.26435T>C , LRG_887:g.26435T>C
NG_033075.1:g.193796A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.755T>C (NPHS2) MANE Select	ENSP00000356587.4:p.Val252Ala
ENST00000367618.8:c.3035A>G (AXDND1) MANE Select	ENSP00000356590.3:p.His1012Arg
ENST00000367615.8:c.755T>C (NPHS2)	ENSP00000356587.4:p.Val252Ala
ENST00000367616.4:c.551T>C (NPHS2)	ENSP00000356588.4:p.Val184Ala
ENST00000367618.7:c.3035A>G (AXDND1)	ENSP00000356590.3:p.His1012Arg
ENST00000434088.1:c.2615A>G (AXDND1)	ENSP00000391716.1:p.His872Arg
ENST00000457238.6:c.*1014A>G (AXDND1)	ENSP00000416712.3:n.*1014A>G
ENST00000484455.1:n.474A>G (AXDND1)
ENST00000484883.1:n.914A>G (AXDND1)
ENST00000489080.1:n.1639A>G (AXDND1)
ENST00000511157.5:c.*1304A>G (AXDND1)	ENSP00000424373.1:n.*1304A>G
ENST00000617277.4:c.*1210A>G (AXDND1)	ENSP00000482167.1:n.*1210A>G
NM_001297575.1:c.551T>C (NPHS2)	NP_001284504.1:p.Val184Ala
NM_014625.3:c.755T>C , LRG_887t1:c.755T>C (NPHS2)	NP_055440.1:p.Val252Ala
NM_144696.5:c.3035A>G (AXDND1)	NP_653297.3:p.His1012Arg
NR_073544.1:n.3155A>G (AXDND1)
XM_005245483.2:c.578T>C (NPHS2)	XP_005245540.1:p.Val193Ala
XM_006711529.2:c.755T>C (NPHS2)	XP_006711592.1:p.Val252Ala
XM_011509165.1:c.3041A>G (AXDND1)	XP_011507467.1:p.His1014Arg
XM_011509166.1:c.3041A>G (AXDND1)	XP_011507468.1:p.His1014Arg
XM_011509167.1:c.3041A>G (AXDND1)	XP_011507469.1:p.His1014Arg
XM_011509168.1:c.3041A>G (AXDND1)	XP_011507470.1:p.His1014Arg
XM_011509169.1:c.2978A>G (AXDND1)	XP_011507471.1:p.His993Arg
XM_011509170.1:c.2933A>G (AXDND1)	XP_011507472.1:p.His978Arg
XM_011509171.1:c.2915A>G (AXDND1)	XP_011507473.1:p.His972Arg
XM_011509172.1:c.2915A>G (AXDND1)	XP_011507474.1:p.His972Arg
XM_011509173.1:c.2915A>G (AXDND1)	XP_011507475.1:p.His972Arg
XM_011509174.1:c.2819A>G (AXDND1)	XP_011507476.1:p.His940Arg
XM_011509175.1:c.2813A>G (AXDND1)	XP_011507477.1:p.His938Arg
XM_011509176.1:c.2744A>G (AXDND1)	XP_011507478.1:p.His915Arg
XM_011509179.1:c.2405A>G (AXDND1)	XP_011507481.1:p.His802Arg
XM_011509181.1:c.1964A>G (AXDND1)	XP_011507483.1:p.His655Arg
XM_005245483.3:c.578T>C (NPHS2)	XP_005245540.1:p.Val193Ala
XM_011509166.3:c.3041A>G (AXDND1)	XP_011507468.1:p.His1014Arg
XM_011509167.3:c.3041A>G (AXDND1)	XP_011507469.1:p.His1014Arg
XM_011509179.2:c.2405A>G (AXDND1)	XP_011507481.1:p.His802Arg
XM_011509181.2:c.1964A>G (AXDND1)	XP_011507483.1:p.His655Arg
XM_017000257.2:c.2300A>G (AXDND1)	XP_016855746.1:p.His767Arg
XM_017000258.2:c.2162A>G (AXDND1)	XP_016855747.1:p.His721Arg
XM_017002298.1:c.462-1834T>C (NPHS2)	XP_016857787.1:n.462-1834T>C
XM_017002299.1:c.535-1834T>C (NPHS2)	XP_016857788.1:n.535-1834T>C
XM_024453104.1:c.2915A>G (AXDND1)	XP_024308872.1:p.His972Arg
XM_024453107.1:c.2915A>G (AXDND1)	XP_024308875.1:p.His972Arg
NM_144696.6:c.3035A>G (AXDND1) MANE Select	NP_653297.3:p.His1012Arg
NM_001297575.2:c.551T>C (NPHS2)	NP_001284504.1:p.Val184Ala
NM_014625.4:c.755T>C (NPHS2) MANE Select	NP_055440.1:p.Val252Ala
NR_073544.2:n.3083A>G (AXDND1)