Canonical Allele Identifier: CA278625439

Gene: ABCC6

Linked Data

• dbSNP Id: rs58902671
• gnomAD v2: 16-16248783-T-C
• gnomAD v3: 16-16154926-T-C
• gnomAD v4: 16-16154926-T-C
• MyVariant Identifiers: chr16:g.16248783T>C (hg19) ; chr16:g.16154926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154926T>C , CM000678.2:g.16154926T>C	GRCh38
NC_000016.9:g.16248783T>C , CM000678.1:g.16248783T>C	GRCh37
NC_000016.8:g.16156284T>C	NCBI36
NG_007558.2:g.73546A>G
NG_007558.3:g.73692A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.851A>G
ENST00000622290.5:c.*160A>G	ENSP00000483331.2:n.*160A>G
ENST00000205557.12:c.3988A>G MANE Select	ENSP00000205557.7:p.Ile1330Val
ENST00000640696.1:c.802A>G	ENSP00000492197.1:p.Ile268Val
ENST00000205557.11:c.3988A>G	ENSP00000205557.7:p.Ile1330Val
ENST00000456970.6:c.3613A>G	ENSP00000405002.2:n.3613A>G
ENST00000576204.5:n.851A>G
ENST00000622290.4:c.*1197A>G	ENSP00000483331.1:n.*1197A>G
NM_001171.5:c.3988A>G	NP_001162.4:p.Ile1330Val
XM_011522479.1:c.3955A>G	XP_011520781.1:p.Ile1319Val
XM_011522480.1:c.3646A>G	XP_011520782.1:p.Ile1216Val
XM_011522481.1:c.3646A>G	XP_011520783.1:p.Ile1216Val
XR_933134.1:n.539-4855T>C
NM_001351800.1:c.3646A>G	NP_001338729.1:p.Ile1216Val
NR_147784.1:n.3650A>G
XM_011522479.2:c.3955A>G	XP_011520781.1:p.Ile1319Val
XM_011522481.3:c.3646A>G	XP_011520783.1:p.Ile1216Val
XM_017023212.1:c.3820A>G	XP_016878701.1:p.Ile1274Val
XM_024450261.1:c.4024A>G	XP_024306029.1:p.Ile1342Val
NM_001171.6:c.3988A>G MANE Select	NP_001162.5:p.Ile1330Val