Canonical Allele Identifier: CA281583

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 6579
• ClinVar RCV Id: RCV000006957 ; RCV000255838 ; RCV000762958
• dbSNP Id: rs63749856
• ExAC: 16:16248867 C / T
• gnomAD v2: 16-16248867-C-T
• gnomAD v3: 16-16155010-C-T
• gnomAD v4: 16-16155010-C-T
• MyVariant Identifiers: chr16:g.16248867C>T (hg19) ; chr16:g.16155010C>T (hg38)
• PubMed: PMID:11536079 ; PMID:11880368

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155010C>T , CM000678.2:g.16155010C>T	GRCh38
NC_000016.9:g.16248867C>T , CM000678.1:g.16248867C>T	GRCh37
NC_000016.8:g.16156368C>T	NCBI36
NG_007558.2:g.73462G>A
NG_007558.3:g.73608G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.767G>A
ENST00000622290.5:c.*76G>A	ENSP00000483331.2:n.*76G>A
ENST00000205557.12:c.3904G>A MANE Select	ENSP00000205557.7:p.Gly1302Arg
ENST00000640696.1:c.718G>A	ENSP00000492197.1:p.Gly240Arg
ENST00000205557.11:c.3904G>A	ENSP00000205557.7:p.Gly1302Arg
ENST00000456970.6:c.3529G>A	ENSP00000405002.2:n.3529G>A
ENST00000576204.5:n.767G>A
ENST00000622290.4:c.*1113G>A	ENSP00000483331.1:n.*1113G>A
NM_001171.5:c.3904G>A	NP_001162.4:p.Gly1302Arg
XM_011522479.1:c.3871G>A	XP_011520781.1:p.Gly1291Arg
XM_011522480.1:c.3562G>A	XP_011520782.1:p.Gly1188Arg
XM_011522481.1:c.3562G>A	XP_011520783.1:p.Gly1188Arg
XR_932836.1:n.4202G>A
XR_932837.1:n.3940G>A
XR_932838.1:n.4003G>A
XR_933134.1:n.539-4771C>T
NM_001351800.1:c.3562G>A	NP_001338729.1:p.Gly1188Arg
NR_147784.1:n.3566G>A
XM_011522479.2:c.3871G>A	XP_011520781.1:p.Gly1291Arg
XM_011522481.3:c.3562G>A	XP_011520783.1:p.Gly1188Arg
XM_017023212.1:c.3736G>A	XP_016878701.1:p.Gly1246Arg
XM_024450261.1:c.3940G>A	XP_024306029.1:p.Gly1314Arg
XR_932836.2:n.4148G>A
XR_932837.3:n.3885G>A
XR_932838.3:n.3948G>A
NM_001171.6:c.3904G>A MANE Select	NP_001162.5:p.Gly1302Arg