Canonical Allele Identifier: CA2176166569
Community Standard Title: NM_024837.4(ATP8B4):c.1308C= (p.Phe436=)
Gene: ATP8B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.49934162G= , CM000677.2:g.49934162G= GRCh38
NC_000015.9:g.50226359G= , CM000677.1:g.50226359G= GRCh37
NC_000015.8:g.48013651G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024837.4:c.1308C= MANE Select NP_079113.2:p.Phe436=
ENST00000284509.11:c.1308C= MANE Select ENSP00000284509.6:p.Phe436=
NM_024837.3:c.1308C= NP_079113.2:p.Phe436=
NR_073596.1:n.1538C=
NR_073596.2:n.1549C=
NR_073597.1:n.1450C=
NR_073597.2:n.1461C=
NR_073598.1:n.1557C=
NR_073598.2:n.1620C=
ENST00000284509.10:c.1308C= ENSP00000284509.6:p.Phe436=
ENST00000557955.5:c.1308C= ENSP00000453690.1:p.Phe436=
ENST00000558906.5:c.*1027C= ENSP00000452956.1:n.*1027C=
ENST00000559726.5:c.*1027C= ENSP00000453229.1:n.*1027C=
ENST00000559829.5:c.1308C= ENSP00000453169.1:p.Phe436=
XM_006720693.2:c.1419C= XP_006720756.1:p.Phe473=
XM_011522046.1:c.1503C= XP_011520348.1:p.Phe501=
XM_011522046.2:c.1503C= XP_011520348.1:p.Phe501=
XM_011522047.1:c.1392C= XP_011520349.1:p.Phe464=
XM_011522047.2:c.1392C= XP_011520349.1:p.Phe464=
XM_011522048.1:c.1392C= XP_011520350.1:p.Phe464=
XM_011522049.1:c.1392C= XP_011520351.1:p.Phe464=
XM_011522049.2:c.1392C= XP_011520351.1:p.Phe464=
XM_011522050.1:c.1392C= XP_011520352.1:p.Phe464=
XM_011522051.1:c.1392C= XP_011520353.1:p.Phe464=
XM_011522051.3:c.1392C= XP_011520353.1:p.Phe464=
XM_011522052.1:c.1392C= XP_011520354.1:p.Phe464=
XM_011522052.3:c.1392C= XP_011520354.1:p.Phe464=
XM_011522053.1:c.1392C= XP_011520355.1:p.Phe464=
XM_011522054.1:c.1344C= XP_011520356.1:p.Phe448=
XM_011522055.1:c.1503C= XP_011520357.1:p.Phe501=
XM_011522056.1:c.1392C= XP_011520358.1:p.Phe464=
XM_011522056.3:c.1392C= XP_011520358.3:p.Phe464=
XM_011522057.1:c.1065C= XP_011520359.1:p.Phe355=
XM_011522058.1:c.1065C= XP_011520360.1:p.Phe355=
XM_011522058.3:c.1065C= XP_011520360.1:p.Phe355=
XM_011522059.1:c.1047C= XP_011520361.1:p.Phe349=
XM_011522060.1:c.1011C= XP_011520362.1:p.Phe337=
XM_011522061.1:c.1011C= XP_011520363.1:p.Phe337=
XM_011522062.1:c.1011C= XP_011520364.1:p.Phe337=
XM_011522063.1:c.1011C= XP_011520365.1:p.Phe337=
XM_011522064.1:c.756C= XP_011520366.1:p.Phe252=
XM_011522065.1:c.1503C= XP_011520367.1:p.Phe501=
XM_011522066.1:c.675C= XP_011520368.1:p.Phe225=
XM_011522067.1:c.1503C= XP_011520369.1:p.Phe501=
XM_011522068.1:c.543C= XP_011520370.1:p.Phe181=
XM_011522069.1:c.543C= XP_011520371.1:p.Phe181=
XM_011522069.2:c.543C= XP_011520371.1:p.Phe181=
XM_011522070.1:c.-52C= XP_011520372.1:n.-52C=
XM_017022587.2:c.1308C= XP_016878076.2:p.Phe436=
XM_017022591.1:c.1392C= XP_016878080.1:p.Phe464=
XM_017022592.1:c.1308C= XP_016878081.1:p.Phe436=
XM_017022594.1:c.1065C= XP_016878083.1:p.Phe355=
XM_017022595.2:c.1011C= XP_016878084.1:p.Phe337=
XM_017022596.1:c.675C= XP_016878085.1:p.Phe225=
XM_024450065.1:c.1419C= XP_024305833.1:p.Phe473=
XM_024450066.1:c.1344C= XP_024305834.1:p.Phe448=
XM_024450067.1:c.1503C= XP_024305835.1:p.Phe501=
XM_024450068.1:c.1503C= XP_024305836.1:p.Phe501=
XM_024450069.1:c.756C= XP_024305837.1:p.Phe252=
XM_024450070.1:c.1503C= XP_024305838.1:p.Phe501=
XR_002957685.1:n.1844C=
XR_002957686.1:n.1844C=
XR_002957687.1:n.1848C=
XR_931908.1:n.1526C=
XR_931909.1:n.1526C=
XR_931910.1:n.1526C=
XR_931911.1:n.1526C=
XR_931912.1:n.1526C=
XR_931913.1:n.1526C=