Canonical Allele Identifier: CA384124463

Gene: ABCC9

Linked Data

• gnomAD v4: 12-21852367-C-G
• MyVariant Identifiers: chr12:g.22005301C>G (hg19) ; chr12:g.21852367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21852367C>G , CM000674.2:g.21852367C>G	GRCh38
NC_000012.11:g.22005301C>G , CM000674.1:g.22005301C>G	GRCh37
NC_000012.10:g.21896568C>G	NCBI36
NG_012819.1:g.89328G>C , LRG_377:g.89328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.2643+1G>C	ENSP00000261201.4:n.2643+1G>C
ENST00000682068.1:c.2643+1G>C	ENSP00000507226.1:n.2643+1G>C
ENST00000682426.1:n.220+1G>C
ENST00000682879.1:c.*1741+1G>C	ENSP00000508210.1:n.*1741+1G>C
ENST00000683105.1:c.2643+1G>C	ENSP00000506801.1:n.2643+1G>C
ENST00000683676.1:c.2643+1G>C	ENSP00000508167.1:n.2643+1G>C
ENST00000683811.1:n.2144+1G>C
ENST00000684084.1:c.2592+1G>C	ENSP00000507859.1:n.2592+1G>C
ENST00000261200.9:c.2643+1G>C MANE Select	ENSP00000261200.4:n.2643+1G>C
ENST00000261201.9:c.2643+1G>C	ENSP00000261201.4:n.2643+1G>C
ENST00000261200.8:c.2643+1G>C	ENSP00000261200.4:n.2643+1G>C
ENST00000261201.8:c.2643+1G>C	ENSP00000261201.4:n.2643+1G>C
ENST00000544039.5:c.1524+1G>C	ENSP00000440521.1:n.1524+1G>C
NM_005691.3:c.2643+1G>C	NP_005682.2:n.2643+1G>C
NM_020297.3:c.2643+1G>C	NP_064693.2:n.2643+1G>C
XM_005253284.2:c.2643+1G>C	XP_005253341.1:n.2643+1G>C
XM_005253286.2:c.2643+1G>C	XP_005253343.1:n.2643+1G>C
XM_005253287.3:c.2643+1G>C	XP_005253344.1:n.2643+1G>C
XM_005253288.2:c.2643+1G>C	XP_005253345.1:n.2643+1G>C
XM_005253289.2:c.2604+1G>C	XP_005253346.1:n.2604+1G>C
XM_005253290.2:c.2502+1G>C	XP_005253347.1:n.2502+1G>C
XM_006719025.2:c.2604+1G>C	XP_006719088.1:n.2604+1G>C
XM_011520545.1:c.2643+1G>C	XP_011518847.1:n.2643+1G>C
XM_005253284.4:c.2643+1G>C	XP_005253341.1:n.2643+1G>C
XM_005253286.4:c.2643+1G>C	XP_005253343.1:n.2643+1G>C
XM_005253287.5:c.2643+1G>C	XP_005253344.1:n.2643+1G>C
XM_005253288.4:c.2643+1G>C	XP_005253345.1:n.2643+1G>C
XM_005253289.4:c.2604+1G>C	XP_005253346.1:n.2604+1G>C
XM_005253290.4:c.2502+1G>C	XP_005253347.1:n.2502+1G>C
XM_006719025.4:c.2604+1G>C	XP_006719088.1:n.2604+1G>C
XM_011520545.3:c.2643+1G>C	XP_011518847.1:n.2643+1G>C
NM_001377273.1:c.2643+1G>C	NP_001364202.1:n.2643+1G>C
NM_001377274.1:c.1776+1G>C	NP_001364203.1:n.1776+1G>C
NM_005691.4:c.2643+1G>C	NP_005682.2:n.2643+1G>C
NM_020297.4:c.2643+1G>C MANE Select	NP_064693.2:n.2643+1G>C