Canonical Allele Identifier: CA6480820

Gene: ABCC9

Linked Data

• dbSNP Id: rs758307506
• ExAC: 12:21958231 A / G
• gnomAD v2: 12-21958231-A-G
• gnomAD v3: 12-21805297-A-G
• gnomAD v4: 12-21805297-A-G
• MyVariant Identifiers: chr12:g.21958231A>G (hg19) ; chr12:g.21805297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805297A>G , CM000674.2:g.21805297A>G	GRCh38
NC_000012.11:g.21958231A>G , CM000674.1:g.21958231A>G	GRCh37
NC_000012.10:g.21849498A>G	NCBI36
NG_012819.1:g.136398T>C , LRG_377:g.136398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4527T>C	ENSP00000261201.4:p.Ser1509=
ENST00000682426.1:n.2089+701T>C
ENST00000682879.1:c.*3610+701T>C	ENSP00000508210.1:n.*3610+701T>C
ENST00000683105.1:c.*536+701T>C	ENSP00000506801.1:n.*536+701T>C
ENST00000683676.1:c.4212-6159T>C	ENSP00000508167.1:n.4212-6159T>C
ENST00000683695.1:n.977+701T>C
ENST00000684084.1:c.4461+701T>C	ENSP00000507859.1:n.4461+701T>C
ENST00000261200.9:c.4512+701T>C MANE Select	ENSP00000261200.4:n.4512+701T>C
ENST00000261201.9:c.4527T>C	ENSP00000261201.4:p.Ser1509=
ENST00000261200.8:c.4512+701T>C	ENSP00000261200.4:n.4512+701T>C
ENST00000261201.8:c.4527T>C	ENSP00000261201.4:p.Ser1509=
ENST00000544039.5:c.3408T>C	ENSP00000440521.1:p.Ser1136=
NM_005691.3:c.4527T>C	NP_005682.2:p.Ser1509=
NM_020297.3:c.4512+701T>C	NP_064693.2:n.4512+701T>C
XM_005253284.2:c.4512+701T>C	XP_005253341.1:n.4512+701T>C
XM_005253286.2:c.4512+701T>C	XP_005253343.1:n.4512+701T>C
XM_005253287.3:c.4527T>C	XP_005253344.1:p.Ser1509=
XM_005253288.2:c.4512+701T>C	XP_005253345.1:n.4512+701T>C
XM_005253289.2:c.4473+701T>C	XP_005253346.1:n.4473+701T>C
XM_005253290.2:c.4371+701T>C	XP_005253347.1:n.4371+701T>C
XM_006719025.2:c.4488T>C	XP_006719088.1:p.Ser1496=
XM_011520545.1:c.4512+701T>C	XP_011518847.1:n.4512+701T>C
XR_931420.1:n.632-21913A>G
XR_931421.1:n.632-21913A>G
XR_931422.1:n.306-21913A>G
XM_005253284.4:c.4512+701T>C	XP_005253341.1:n.4512+701T>C
XM_005253286.4:c.4512+701T>C	XP_005253343.1:n.4512+701T>C
XM_005253287.5:c.4527T>C	XP_005253344.1:p.Ser1509=
XM_005253288.4:c.4512+701T>C	XP_005253345.1:n.4512+701T>C
XM_005253289.4:c.4473+701T>C	XP_005253346.1:n.4473+701T>C
XM_005253290.4:c.4371+701T>C	XP_005253347.1:n.4371+701T>C
XM_006719025.4:c.4488T>C	XP_006719088.1:p.Ser1496=
XM_011520545.3:c.4512+701T>C	XP_011518847.1:n.4512+701T>C
XR_931420.3:n.632-21913A>G
XR_931422.2:n.318-21913A>G
NM_001377273.1:c.4512+701T>C	NP_001364202.1:n.4512+701T>C
NM_001377274.1:c.3645+701T>C	NP_001364203.1:n.3645+701T>C
NM_005691.4:c.4527T>C	NP_005682.2:p.Ser1509=
NM_020297.4:c.4512+701T>C MANE Select	NP_064693.2:n.4512+701T>C