Canonical Allele Identifier: CA343566527

Gene: NPHS2 AXDND1

Linked Data

• ClinVar Variation Id: 1344831
• ClinVar RCV Id: RCV001849833
• dbSNP Id: rs2125780619
• COSMIC: COSM1473078
• MyVariant Identifiers: chr1:g.179523663C>T (hg19) ; chr1:g.179554528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179554528C>T , CM000663.2:g.179554528C>T	GRCh38
NC_000001.10:g.179523663C>T , CM000663.1:g.179523663C>T	GRCh37
NC_000001.9:g.177790286C>T	NCBI36
NG_007535.1:g.26422G>A , LRG_887:g.26422G>A
NG_033075.1:g.193809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.742G>A (NPHS2) MANE Select	ENSP00000356587.4:p.Ala248Thr
ENST00000367618.8:c.*9C>T (AXDND1) MANE Select	ENSP00000356590.3:n.*9C>T
ENST00000367615.8:c.742G>A (NPHS2)	ENSP00000356587.4:p.Ala248Thr
ENST00000367616.4:c.538G>A (NPHS2)	ENSP00000356588.4:p.Ala180Thr
ENST00000367618.7:c.*9C>T (AXDND1)	ENSP00000356590.3:n.*9C>T
ENST00000434088.1:c.2628C>T (AXDND1)	ENSP00000391716.1:n.2628C>T
ENST00000457238.6:c.*1027C>T (AXDND1)	ENSP00000416712.3:n.*1027C>T
ENST00000484455.1:n.487C>T (AXDND1)
ENST00000484883.1:n.927C>T (AXDND1)
ENST00000489080.1:n.1652C>T (AXDND1)
ENST00000511157.5:c.*1317C>T (AXDND1)	ENSP00000424373.1:n.*1317C>T
ENST00000617277.4:c.*1223C>T (AXDND1)	ENSP00000482167.1:n.*1223C>T
NM_001297575.1:c.538G>A (NPHS2)	NP_001284504.1:p.Ala180Thr
NM_014625.3:c.742G>A , LRG_887t1:c.742G>A (NPHS2)	NP_055440.1:p.Ala248Thr
NM_144696.5:c.*9C>T (AXDND1)	NP_653297.3:n.*9C>T
NR_073544.1:n.3168C>T (AXDND1)
XM_005245483.2:c.565G>A (NPHS2)	XP_005245540.1:p.Ala189Thr
XM_006711529.2:c.742G>A (NPHS2)	XP_006711592.1:p.Ala248Thr
XM_011509165.1:c.*9C>T (AXDND1)	XP_011507467.1:n.*9C>T
XM_011509166.1:c.*9C>T (AXDND1)	XP_011507468.1:n.*9C>T
XM_011509167.1:c.*9C>T (AXDND1)	XP_011507469.1:n.*9C>T
XM_011509168.1:c.*9C>T (AXDND1)	XP_011507470.1:n.*9C>T
XM_011509169.1:c.*9C>T (AXDND1)	XP_011507471.1:n.*9C>T
XM_011509170.1:c.*9C>T (AXDND1)	XP_011507472.1:n.*9C>T
XM_011509171.1:c.*9C>T (AXDND1)	XP_011507473.1:n.*9C>T
XM_011509172.1:c.*9C>T (AXDND1)	XP_011507474.1:n.*9C>T
XM_011509173.1:c.*9C>T (AXDND1)	XP_011507475.1:n.*9C>T
XM_011509174.1:c.*9C>T (AXDND1)	XP_011507476.1:n.*9C>T
XM_011509175.1:c.*9C>T (AXDND1)	XP_011507477.1:n.*9C>T
XM_011509176.1:c.*9C>T (AXDND1)	XP_011507478.1:n.*9C>T
XM_011509179.1:c.*9C>T (AXDND1)	XP_011507481.1:n.*9C>T
XM_011509181.1:c.*9C>T (AXDND1)	XP_011507483.1:n.*9C>T
XM_005245483.3:c.565G>A (NPHS2)	XP_005245540.1:p.Ala189Thr
XM_011509166.3:c.*9C>T (AXDND1)	XP_011507468.1:n.*9C>T
XM_011509167.3:c.*9C>T (AXDND1)	XP_011507469.1:n.*9C>T
XM_011509179.2:c.*9C>T (AXDND1)	XP_011507481.1:n.*9C>T
XM_011509181.2:c.*9C>T (AXDND1)	XP_011507483.1:n.*9C>T
XM_017000257.2:c.*9C>T (AXDND1)	XP_016855746.1:n.*9C>T
XM_017000258.2:c.*9C>T (AXDND1)	XP_016855747.1:n.*9C>T
XM_017002298.1:c.462-1847G>A (NPHS2)	XP_016857787.1:n.462-1847G>A
XM_017002299.1:c.535-1847G>A (NPHS2)	XP_016857788.1:n.535-1847G>A
XM_024453104.1:c.*9C>T (AXDND1)	XP_024308872.1:n.*9C>T
XM_024453107.1:c.*9C>T (AXDND1)	XP_024308875.1:n.*9C>T
NM_144696.6:c.*9C>T (AXDND1) MANE Select	NP_653297.3:n.*9C>T
NM_001297575.2:c.538G>A (NPHS2)	NP_001284504.1:p.Ala180Thr
NM_014625.4:c.742G>A (NPHS2) MANE Select	NP_055440.1:p.Ala248Thr
NR_073544.2:n.3096C>T (AXDND1)