Canonical Allele Identifier: CA384129641

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 883307
• ClinVar RCV Id: RCV001113604 ; RCV001113603
• dbSNP Id: rs876657737
• gnomAD v4: 12-21805305-C-A
• MyVariant Identifiers: chr12:g.21958239C>A (hg19) ; chr12:g.21805305C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805305C>A , CM000674.2:g.21805305C>A	GRCh38
NC_000012.11:g.21958239C>A , CM000674.1:g.21958239C>A	GRCh37
NC_000012.10:g.21849506C>A	NCBI36
NG_012819.1:g.136390G>T , LRG_377:g.136390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4519G>T	ENSP00000261201.4:p.Val1507Phe
ENST00000682426.1:n.2089+693G>T
ENST00000682879.1:c.*3610+693G>T	ENSP00000508210.1:n.*3610+693G>T
ENST00000683105.1:c.*536+693G>T	ENSP00000506801.1:n.*536+693G>T
ENST00000683676.1:c.4212-6167G>T	ENSP00000508167.1:n.4212-6167G>T
ENST00000683695.1:n.977+693G>T
ENST00000684084.1:c.4461+693G>T	ENSP00000507859.1:n.4461+693G>T
ENST00000261200.9:c.4512+693G>T MANE Select	ENSP00000261200.4:n.4512+693G>T
ENST00000261201.9:c.4519G>T	ENSP00000261201.4:p.Val1507Phe
ENST00000261200.8:c.4512+693G>T	ENSP00000261200.4:n.4512+693G>T
ENST00000261201.8:c.4519G>T	ENSP00000261201.4:p.Val1507Phe
ENST00000544039.5:c.3400G>T	ENSP00000440521.1:p.Val1134Phe
NM_005691.3:c.4519G>T	NP_005682.2:p.Val1507Phe
NM_020297.3:c.4512+693G>T	NP_064693.2:n.4512+693G>T
XM_005253284.2:c.4512+693G>T	XP_005253341.1:n.4512+693G>T
XM_005253286.2:c.4512+693G>T	XP_005253343.1:n.4512+693G>T
XM_005253287.3:c.4519G>T	XP_005253344.1:p.Val1507Phe
XM_005253288.2:c.4512+693G>T	XP_005253345.1:n.4512+693G>T
XM_005253289.2:c.4473+693G>T	XP_005253346.1:n.4473+693G>T
XM_005253290.2:c.4371+693G>T	XP_005253347.1:n.4371+693G>T
XM_006719025.2:c.4480G>T	XP_006719088.1:p.Val1494Phe
XM_011520545.1:c.4512+693G>T	XP_011518847.1:n.4512+693G>T
XR_931420.1:n.632-21905C>A
XR_931421.1:n.632-21905C>A
XR_931422.1:n.306-21905C>A
XM_005253284.4:c.4512+693G>T	XP_005253341.1:n.4512+693G>T
XM_005253286.4:c.4512+693G>T	XP_005253343.1:n.4512+693G>T
XM_005253287.5:c.4519G>T	XP_005253344.1:p.Val1507Phe
XM_005253288.4:c.4512+693G>T	XP_005253345.1:n.4512+693G>T
XM_005253289.4:c.4473+693G>T	XP_005253346.1:n.4473+693G>T
XM_005253290.4:c.4371+693G>T	XP_005253347.1:n.4371+693G>T
XM_006719025.4:c.4480G>T	XP_006719088.1:p.Val1494Phe
XM_011520545.3:c.4512+693G>T	XP_011518847.1:n.4512+693G>T
XR_931420.3:n.632-21905C>A
XR_931422.2:n.318-21905C>A
NM_001377273.1:c.4512+693G>T	NP_001364202.1:n.4512+693G>T
NM_001377274.1:c.3645+693G>T	NP_001364203.1:n.3645+693G>T
NM_005691.4:c.4519G>T	NP_005682.2:p.Val1507Phe
NM_020297.4:c.4512+693G>T MANE Select	NP_064693.2:n.4512+693G>T