Canonical Allele Identifier: CA2617930377

Gene: ABCC9

Linked Data

• gnomAD v4: 12-21828909-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21828909G>A , CM000674.2:g.21828909G>A	GRCh38
NC_000012.11:g.21981843G>A , CM000674.1:g.21981843G>A	GRCh37
NC_000012.10:g.21873110G>A	NCBI36
NG_012819.1:g.112786C>T , LRG_377:g.112786C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.3669+49C>T	ENSP00000261201.4:n.3669+49C>T
ENST00000682068.1:c.*10C>T	ENSP00000507226.1:n.*10C>T
ENST00000682426.1:n.1246+49C>T
ENST00000682879.1:c.*2767+49C>T	ENSP00000508210.1:n.*2767+49C>T
ENST00000683105.1:c.3669+49C>T	ENSP00000506801.1:n.3669+49C>T
ENST00000683676.1:c.3669+49C>T	ENSP00000508167.1:n.3669+49C>T
ENST00000683695.1:n.134+49C>T
ENST00000683811.1:n.3170+49C>T
ENST00000684084.1:c.3618+49C>T	ENSP00000507859.1:n.3618+49C>T
ENST00000261200.9:c.3669+49C>T MANE Select	ENSP00000261200.4:n.3669+49C>T
ENST00000261201.9:c.3669+49C>T	ENSP00000261201.4:n.3669+49C>T
ENST00000261200.8:c.3669+49C>T	ENSP00000261200.4:n.3669+49C>T
ENST00000261201.8:c.3669+49C>T	ENSP00000261201.4:n.3669+49C>T
ENST00000544039.5:c.2550+49C>T	ENSP00000440521.1:n.2550+49C>T
NM_005691.3:c.3669+49C>T	NP_005682.2:n.3669+49C>T
NM_020297.3:c.3669+49C>T	NP_064693.2:n.3669+49C>T
XM_005253284.2:c.3669+49C>T	XP_005253341.1:n.3669+49C>T
XM_005253286.2:c.3669+49C>T	XP_005253343.1:n.3669+49C>T
XM_005253287.3:c.3669+49C>T	XP_005253344.1:n.3669+49C>T
XM_005253288.2:c.3669+49C>T	XP_005253345.1:n.3669+49C>T
XM_005253289.2:c.3630+49C>T	XP_005253346.1:n.3630+49C>T
XM_005253290.2:c.3528+49C>T	XP_005253347.1:n.3528+49C>T
XM_006719025.2:c.3630+49C>T	XP_006719088.1:n.3630+49C>T
XM_011520545.1:c.3669+49C>T	XP_011518847.1:n.3669+49C>T
XR_931421.1:n.849G>A
XM_005253284.4:c.3669+49C>T	XP_005253341.1:n.3669+49C>T
XM_005253286.4:c.3669+49C>T	XP_005253343.1:n.3669+49C>T
XM_005253287.5:c.3669+49C>T	XP_005253344.1:n.3669+49C>T
XM_005253288.4:c.3669+49C>T	XP_005253345.1:n.3669+49C>T
XM_005253289.4:c.3630+49C>T	XP_005253346.1:n.3630+49C>T
XM_005253290.4:c.3528+49C>T	XP_005253347.1:n.3528+49C>T
XM_006719025.4:c.3630+49C>T	XP_006719088.1:n.3630+49C>T
XM_011520545.3:c.3669+49C>T	XP_011518847.1:n.3669+49C>T
XR_931420.3:n.2331G>A
XR_931422.2:n.2017G>A
NM_001377273.1:c.3669+49C>T	NP_001364202.1:n.3669+49C>T
NM_001377274.1:c.2802+49C>T	NP_001364203.1:n.2802+49C>T
NM_005691.4:c.3669+49C>T	NP_005682.2:n.3669+49C>T
NM_020297.4:c.3669+49C>T MANE Select	NP_064693.2:n.3669+49C>T