Canonical Allele Identifier: CA8043982
Gene: ABCC11 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.48214963G>T , CM000678.2:g.48214963G>T GRCh38
NC_000016.9:g.48248874G>T , CM000678.1:g.48248874G>T GRCh37
NC_000016.8:g.46806375G>T NCBI36
NG_011522.1:g.25215C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356608.7:c.1166C>A MANE Select ENSP00000349017.2:p.Thr389Asn
ENST00000353782.9:c.1166C>A ENSP00000311326.6:p.Thr389Asn
ENST00000356608.6:c.1166C>A ENSP00000349017.2:p.Thr389Asn
ENST00000394747.5:c.1166C>A ENSP00000378230.1:p.Thr389Asn
ENST00000394748.5:c.1166C>A ENSP00000378231.1:p.Thr389Asn
ENST00000567385.5:n.1564C>A
NM_032583.3:c.1166C>A NP_115972.2:p.Thr389Asn
NM_033151.3:c.1166C>A NP_149163.2:p.Thr389Asn
NM_145186.2:c.1166C>A NP_660187.1:p.Thr389Asn
XM_011523396.1:c.968C>A XP_011521698.1:p.Thr323Asn
XM_011523397.1:c.209C>A XP_011521699.1:p.Thr70Asn
XM_011523397.2:c.209C>A XP_011521699.1:p.Thr70Asn
XM_017023795.2:c.1166C>A XP_016879284.1:p.Thr389Asn
XM_017023796.2:c.1166C>A XP_016879285.1:p.Thr389Asn
XM_017023797.2:c.1166C>A XP_016879286.1:p.Thr389Asn
XM_017023798.2:c.1166C>A XP_016879287.1:p.Thr389Asn
XM_017023799.2:c.1166C>A XP_016879288.1:p.Thr389Asn
XM_017023800.2:c.1166C>A XP_016879289.1:p.Thr389Asn
XM_017023801.2:c.1166C>A XP_016879290.1:p.Thr389Asn
XM_017023802.2:c.209C>A XP_016879291.1:p.Thr70Asn
XM_017023803.1:c.1166C>A XP_016879292.1:p.Thr389Asn
XM_024450475.1:c.209C>A XP_024306243.1:p.Thr70Asn
XR_001752012.1:n.3844C>A
NM_001370496.1:c.1166C>A NP_001357425.1:p.Thr389Asn
NM_001370497.1:c.1166C>A MANE Select NP_001357426.1:p.Thr389Asn
NM_032583.4:c.1166C>A NP_115972.2:p.Thr389Asn
NM_033151.4:c.1166C>A NP_149163.2:p.Thr389Asn
NM_145186.3:c.1166C>A NP_660187.1:p.Thr389Asn