Canonical Allele Identifier: CA16619502

Gene: ABCC9

Linked Data

• ClinVar Variation Id: 420903
• ClinVar RCV Id: RCV000487267
• dbSNP Id: rs1064794779
• MyVariant Identifiers: chr12:g.21981924A>C (hg19) ; chr12:g.21828990A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21828990A>C , CM000674.2:g.21828990A>C	GRCh38
NC_000012.11:g.21981924A>C , CM000674.1:g.21981924A>C	GRCh37
NC_000012.10:g.21873191A>C	NCBI36
NG_012819.1:g.112705T>G , LRG_377:g.112705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3637T>G	ENSP00000261201.4:p.Ser1213Ala
ENST00000682068.1:c.3637T>G	ENSP00000507226.1:p.Ser1213Ala
ENST00000682426.1:n.1214T>G
ENST00000682879.1:c.*2735T>G	ENSP00000508210.1:n.*2735T>G
ENST00000683105.1:c.3637T>G	ENSP00000506801.1:p.Ser1213Ala
ENST00000683676.1:c.3637T>G	ENSP00000508167.1:p.Ser1213Ala
ENST00000683695.1:n.102T>G
ENST00000683811.1:n.3138T>G
ENST00000684084.1:c.3586T>G	ENSP00000507859.1:p.Ser1196Ala
ENST00000261200.9:c.3637T>G MANE Select	ENSP00000261200.4:p.Ser1213Ala
ENST00000261201.9:c.3637T>G	ENSP00000261201.4:p.Ser1213Ala
ENST00000261200.8:c.3637T>G	ENSP00000261200.4:p.Ser1213Ala
ENST00000261201.8:c.3637T>G	ENSP00000261201.4:p.Ser1213Ala
ENST00000544039.5:c.2518T>G	ENSP00000440521.1:p.Ser840Ala
NM_005691.3:c.3637T>G	NP_005682.2:p.Ser1213Ala
NM_020297.3:c.3637T>G	NP_064693.2:p.Ser1213Ala
XM_005253284.2:c.3637T>G	XP_005253341.1:p.Ser1213Ala
XM_005253286.2:c.3637T>G	XP_005253343.1:p.Ser1213Ala
XM_005253287.3:c.3637T>G	XP_005253344.1:p.Ser1213Ala
XM_005253288.2:c.3637T>G	XP_005253345.1:p.Ser1213Ala
XM_005253289.2:c.3598T>G	XP_005253346.1:p.Ser1200Ala
XM_005253290.2:c.3496T>G	XP_005253347.1:p.Ser1166Ala
XM_006719025.2:c.3598T>G	XP_006719088.1:p.Ser1200Ala
XM_011520545.1:c.3637T>G	XP_011518847.1:p.Ser1213Ala
XR_931421.1:n.930A>C
XM_005253284.4:c.3637T>G	XP_005253341.1:p.Ser1213Ala
XM_005253286.4:c.3637T>G	XP_005253343.1:p.Ser1213Ala
XM_005253287.5:c.3637T>G	XP_005253344.1:p.Ser1213Ala
XM_005253288.4:c.3637T>G	XP_005253345.1:p.Ser1213Ala
XM_005253289.4:c.3598T>G	XP_005253346.1:p.Ser1200Ala
XM_005253290.4:c.3496T>G	XP_005253347.1:p.Ser1166Ala
XM_006719025.4:c.3598T>G	XP_006719088.1:p.Ser1200Ala
XM_011520545.3:c.3637T>G	XP_011518847.1:p.Ser1213Ala
XR_931420.3:n.2412A>C
XR_931422.2:n.2098A>C
NM_001377273.1:c.3637T>G	NP_001364202.1:p.Ser1213Ala
NM_001377274.1:c.2770T>G	NP_001364203.1:p.Ser924Ala
NM_005691.4:c.3637T>G	NP_005682.2:p.Ser1213Ala
NM_020297.4:c.3637T>G MANE Select	NP_064693.2:p.Ser1213Ala