Canonical Allele Identifier: CA129007
Gene: ABCC9 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30185
dbSNP Id: rs387906805

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21805184G>A , CM000674.2:g.21805184G>A GRCh38
NC_000012.11:g.21958118G>A , CM000674.1:g.21958118G>A GRCh37
NC_000012.10:g.21849385G>A NCBI36
NG_012819.1:g.136511C>T , LRG_377:g.136511C>T

Transcript Alleles

HGVS Amino-acid change
NM_005691.3:c.4640C>T VV NP_005682.2:p.Thr1547Ile
NM_020297.3:c.4512+814C>T VV NP_064693.2:p.=
XM_005253284.2:c.4512+814C>T XP_005253341.1:p.=
XM_005253286.2:c.4512+814C>T XP_005253343.1:p.=
XM_005253287.3:c.4640C>T XP_005253344.1:p.Thr1547Ile
XM_005253288.2:c.4512+814C>T XP_005253345.1:p.=
XM_005253289.2:c.4473+814C>T XP_005253346.1:p.=
XM_005253290.2:c.4371+814C>T XP_005253347.1:p.=
XM_006719025.2:c.4601C>T XP_006719088.1:p.Thr1534Ile
XM_011520545.1:c.4512+814C>T XP_011518847.1:p.=
XR_931420.1:n.632-22026G>A
XR_931421.1:n.632-22026G>A
XR_931422.1:n.306-22026G>A
XM_005253284.4:c.4512+814C>T XP_005253341.1:p.=
XM_005253286.4:c.4512+814C>T XP_005253343.1:p.=
XM_005253287.5:c.4640C>T XP_005253344.1:p.Thr1547Ile
XM_005253288.4:c.4512+814C>T XP_005253345.1:p.=
XM_005253289.4:c.4473+814C>T XP_005253346.1:p.=
XM_005253290.4:c.4371+814C>T XP_005253347.1:p.=
XM_006719025.4:c.4601C>T XP_006719088.1:p.Thr1534Ile
XM_011520545.3:c.4512+814C>T XP_011518847.1:p.=
XR_931420.3:n.632-22026G>A
XR_931422.2:n.318-22026G>A
ENST00000261200.8:n.4512+814C>T ENSP00000261200.4:p.=
ENST00000261201.8:n.4640C>T ENSP00000261201.4:p.Thr1547Ile
ENST00000544039.5:n.3521C>T ENSP00000440521.1:p.Thr1174Ile