Canonical Allele Identifier: CA8044073
Gene: ABCC11 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.48216209C>T , CM000678.2:g.48216209C>T GRCh38
NC_000016.9:g.48250120C>T , CM000678.1:g.48250120C>T GRCh37
NC_000016.8:g.46807621C>T NCBI36
NG_011522.1:g.23969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356608.7:c.856G>A MANE Select ENSP00000349017.2:p.Ala286Thr
ENST00000353782.9:c.856G>A ENSP00000311326.6:p.Ala286Thr
ENST00000356608.6:c.856G>A ENSP00000349017.2:p.Ala286Thr
ENST00000394747.5:c.856G>A ENSP00000378230.1:p.Ala286Thr
ENST00000394748.5:c.856G>A ENSP00000378231.1:p.Ala286Thr
ENST00000565487.1:n.463G>A
ENST00000567385.5:n.1254G>A
NM_032583.3:c.856G>A NP_115972.2:p.Ala286Thr
NM_033151.3:c.856G>A NP_149163.2:p.Ala286Thr
NM_145186.2:c.856G>A NP_660187.1:p.Ala286Thr
XM_011523396.1:c.658G>A XP_011521698.1:p.Ala220Thr
XM_011523397.1:c.-102G>A XP_011521699.1:n.-102G>A
XM_011523397.2:c.-102G>A XP_011521699.1:n.-102G>A
XM_017023795.2:c.856G>A XP_016879284.1:p.Ala286Thr
XM_017023796.2:c.856G>A XP_016879285.1:p.Ala286Thr
XM_017023797.2:c.856G>A XP_016879286.1:p.Ala286Thr
XM_017023798.2:c.856G>A XP_016879287.1:p.Ala286Thr
XM_017023799.2:c.856G>A XP_016879288.1:p.Ala286Thr
XM_017023800.2:c.856G>A XP_016879289.1:p.Ala286Thr
XM_017023801.2:c.856G>A XP_016879290.1:p.Ala286Thr
XM_017023803.1:c.856G>A XP_016879292.1:p.Ala286Thr
XM_024450475.1:c.-102G>A XP_024306243.1:n.-102G>A
XR_001752012.1:n.3534G>A
NM_001370496.1:c.856G>A NP_001357425.1:p.Ala286Thr
NM_001370497.1:c.856G>A MANE Select NP_001357426.1:p.Ala286Thr
NM_032583.4:c.856G>A NP_115972.2:p.Ala286Thr
NM_033151.4:c.856G>A NP_149163.2:p.Ala286Thr
NM_145186.3:c.856G>A NP_660187.1:p.Ala286Thr