Canonical Allele Identifier: CA422024854
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.179523658C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179554523C>T , CM000663.2:g.179554523C>T GRCh38
NC_000001.10:g.179523658C>T , CM000663.1:g.179523658C>T GRCh37
NC_000001.9:g.177790281C>T NCBI36
NG_007535.1:g.26427G>A , LRG_887:g.26427G>A
NG_033075.1:g.193804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.747G>A (NPHS2) MANE Select ENSP00000356587.4:p.Leu249=
ENST00000367618.8:c.*4C>T (AXDND1) MANE Select ENSP00000356590.3:n.*4C>T
ENST00000367615.8:c.747G>A (NPHS2) ENSP00000356587.4:p.Leu249=
ENST00000367616.4:c.543G>A (NPHS2) ENSP00000356588.4:p.Leu181=
ENST00000367618.7:c.*4C>T (AXDND1) ENSP00000356590.3:n.*4C>T
ENST00000434088.1:c.2623C>T (AXDND1) ENSP00000391716.1:n.2623C>T
ENST00000457238.6:c.*1022C>T (AXDND1) ENSP00000416712.3:n.*1022C>T
ENST00000484455.1:n.482C>T (AXDND1)
ENST00000484883.1:n.922C>T (AXDND1)
ENST00000489080.1:n.1647C>T (AXDND1)
ENST00000511157.5:c.*1312C>T (AXDND1) ENSP00000424373.1:n.*1312C>T
ENST00000617277.4:c.*1218C>T (AXDND1) ENSP00000482167.1:n.*1218C>T
NM_001297575.1:c.543G>A (NPHS2) NP_001284504.1:p.Leu181=
NM_014625.3:c.747G>A , LRG_887t1:c.747G>A (NPHS2) NP_055440.1:p.Leu249=
NM_144696.5:c.*4C>T (AXDND1) NP_653297.3:n.*4C>T
NR_073544.1:n.3163C>T (AXDND1)
XM_005245483.2:c.570G>A (NPHS2) XP_005245540.1:p.Leu190=
XM_006711529.2:c.747G>A (NPHS2) XP_006711592.1:p.Leu249=
XM_011509165.1:c.*4C>T (AXDND1) XP_011507467.1:n.*4C>T
XM_011509166.1:c.*4C>T (AXDND1) XP_011507468.1:n.*4C>T
XM_011509167.1:c.*4C>T (AXDND1) XP_011507469.1:n.*4C>T
XM_011509168.1:c.*4C>T (AXDND1) XP_011507470.1:n.*4C>T
XM_011509169.1:c.*4C>T (AXDND1) XP_011507471.1:n.*4C>T
XM_011509170.1:c.*4C>T (AXDND1) XP_011507472.1:n.*4C>T
XM_011509171.1:c.*4C>T (AXDND1) XP_011507473.1:n.*4C>T
XM_011509172.1:c.*4C>T (AXDND1) XP_011507474.1:n.*4C>T
XM_011509173.1:c.*4C>T (AXDND1) XP_011507475.1:n.*4C>T
XM_011509174.1:c.*4C>T (AXDND1) XP_011507476.1:n.*4C>T
XM_011509175.1:c.*4C>T (AXDND1) XP_011507477.1:n.*4C>T
XM_011509176.1:c.*4C>T (AXDND1) XP_011507478.1:n.*4C>T
XM_011509179.1:c.*4C>T (AXDND1) XP_011507481.1:n.*4C>T
XM_011509181.1:c.*4C>T (AXDND1) XP_011507483.1:n.*4C>T
XM_005245483.3:c.570G>A (NPHS2) XP_005245540.1:p.Leu190=
XM_011509166.3:c.*4C>T (AXDND1) XP_011507468.1:n.*4C>T
XM_011509167.3:c.*4C>T (AXDND1) XP_011507469.1:n.*4C>T
XM_011509179.2:c.*4C>T (AXDND1) XP_011507481.1:n.*4C>T
XM_011509181.2:c.*4C>T (AXDND1) XP_011507483.1:n.*4C>T
XM_017000257.2:c.*4C>T (AXDND1) XP_016855746.1:n.*4C>T
XM_017000258.2:c.*4C>T (AXDND1) XP_016855747.1:n.*4C>T
XM_017002298.1:c.462-1842G>A (NPHS2) XP_016857787.1:n.462-1842G>A
XM_017002299.1:c.535-1842G>A (NPHS2) XP_016857788.1:n.535-1842G>A
XM_024453104.1:c.*4C>T (AXDND1) XP_024308872.1:n.*4C>T
XM_024453107.1:c.*4C>T (AXDND1) XP_024308875.1:n.*4C>T
NM_144696.6:c.*4C>T (AXDND1) MANE Select NP_653297.3:n.*4C>T
NM_001297575.2:c.543G>A (NPHS2) NP_001284504.1:p.Leu181=
NM_014625.4:c.747G>A (NPHS2) MANE Select NP_055440.1:p.Leu249=
NR_073544.2:n.3091C>T (AXDND1)