Canonical Allele Identifier: CA394875772

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1033355
• ClinVar RCV Id: RCV001335747
• dbSNP Id: rs2046496590
• gnomAD v4: 16-16154962-C-T
• MyVariant Identifiers: chr16:g.16248819C>T (hg19) ; chr16:g.16154962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154962C>T , CM000678.2:g.16154962C>T	GRCh38
NC_000016.9:g.16248819C>T , CM000678.1:g.16248819C>T	GRCh37
NC_000016.8:g.16156320C>T	NCBI36
NG_007558.2:g.73510G>A
NG_007558.3:g.73656G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.815G>A
ENST00000622290.5:c.*124G>A	ENSP00000483331.2:n.*124G>A
ENST00000205557.12:c.3952G>A MANE Select	ENSP00000205557.7:p.Ala1318Thr
ENST00000640696.1:c.766G>A	ENSP00000492197.1:p.Ala256Thr
ENST00000205557.11:c.3952G>A	ENSP00000205557.7:p.Ala1318Thr
ENST00000456970.6:c.3577G>A	ENSP00000405002.2:n.3577G>A
ENST00000576204.5:n.815G>A
ENST00000622290.4:c.*1161G>A	ENSP00000483331.1:n.*1161G>A
NM_001171.5:c.3952G>A	NP_001162.4:p.Ala1318Thr
XM_011522479.1:c.3919G>A	XP_011520781.1:p.Ala1307Thr
XM_011522480.1:c.3610G>A	XP_011520782.1:p.Ala1204Thr
XM_011522481.1:c.3610G>A	XP_011520783.1:p.Ala1204Thr
XR_932836.1:n.4250G>A
XR_932837.1:n.3988G>A
XR_932838.1:n.4051G>A
XR_933134.1:n.539-4819C>T
NM_001351800.1:c.3610G>A	NP_001338729.1:p.Ala1204Thr
NR_147784.1:n.3614G>A
XM_011522479.2:c.3919G>A	XP_011520781.1:p.Ala1307Thr
XM_011522481.3:c.3610G>A	XP_011520783.1:p.Ala1204Thr
XM_017023212.1:c.3784G>A	XP_016878701.1:p.Ala1262Thr
XM_024450261.1:c.3988G>A	XP_024306029.1:p.Ala1330Thr
XR_932837.3:n.3933G>A
NM_001171.6:c.3952G>A MANE Select	NP_001162.5:p.Ala1318Thr