Canonical Allele Identifier: CA235865
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 191032
ClinVar RCV Id: RCV000171207
dbSNP Id: rs786205475

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21838124G>A , CM000674.2:g.21838124G>A GRCh38
NC_000012.11:g.21991058G>A , CM000674.1:g.21991058G>A GRCh37
NC_000012.10:g.21882325G>A NCBI36
NG_012819.1:g.103571C>T , LRG_377:g.103571C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261201.10:c.3520C>T ENSP00000261201.4:p.His1174Tyr
ENST00000682068.1:c.3520C>T ENSP00000507226.1:p.His1174Tyr
ENST00000682426.1:n.1097C>T
ENST00000682879.1:c.*2618C>T ENSP00000508210.1:n.*2618C>T
ENST00000683105.1:c.3520C>T ENSP00000506801.1:p.His1174Tyr
ENST00000683676.1:c.3520C>T ENSP00000508167.1:p.His1174Tyr
ENST00000683811.1:n.3021C>T
ENST00000684084.1:c.3469C>T ENSP00000507859.1:p.His1157Tyr
ENST00000261200.9:c.3520C>T MANE Select ENSP00000261200.4:p.His1174Tyr
ENST00000261201.9:c.3520C>T ENSP00000261201.4:p.His1174Tyr
ENST00000261200.8:c.3520C>T ENSP00000261200.4:p.His1174Tyr
ENST00000261201.8:c.3520C>T ENSP00000261201.4:p.His1174Tyr
ENST00000544039.5:c.2401C>T ENSP00000440521.1:p.His801Tyr
NM_005691.3:c.3520C>T NP_005682.2:p.His1174Tyr
NM_020297.3:c.3520C>T NP_064693.2:p.His1174Tyr
XM_005253284.2:c.3520C>T XP_005253341.1:p.His1174Tyr
XM_005253286.2:c.3520C>T XP_005253343.1:p.His1174Tyr
XM_005253287.3:c.3520C>T XP_005253344.1:p.His1174Tyr
XM_005253288.2:c.3520C>T XP_005253345.1:p.His1174Tyr
XM_005253289.2:c.3481C>T XP_005253346.1:p.His1161Tyr
XM_005253290.2:c.3379C>T XP_005253347.1:p.His1127Tyr
XM_006719025.2:c.3481C>T XP_006719088.1:p.His1161Tyr
XM_011520545.1:c.3520C>T XP_011518847.1:p.His1174Tyr
XM_005253284.4:c.3520C>T XP_005253341.1:p.His1174Tyr
XM_005253286.4:c.3520C>T XP_005253343.1:p.His1174Tyr
XM_005253287.5:c.3520C>T XP_005253344.1:p.His1174Tyr
XM_005253288.4:c.3520C>T XP_005253345.1:p.His1174Tyr
XM_005253289.4:c.3481C>T XP_005253346.1:p.His1161Tyr
XM_005253290.4:c.3379C>T XP_005253347.1:p.His1127Tyr
XM_006719025.4:c.3481C>T XP_006719088.1:p.His1161Tyr
XM_011520545.3:c.3520C>T XP_011518847.1:p.His1174Tyr
NM_001377273.1:c.3520C>T NP_001364202.1:p.His1174Tyr
NM_001377274.1:c.2653C>T NP_001364203.1:p.His885Tyr
NM_005691.4:c.3520C>T NP_005682.2:p.His1174Tyr
NM_020297.4:c.3520C>T MANE Select NP_064693.2:p.His1174Tyr