Canonical Allele Identifier: CA7925379

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1456552
• ClinVar RCV Id: RCV001951205 ; RCV002484801 ; RCV003401969
• dbSNP Id: rs374086268
• ExAC: 16:16248884 C / T
• gnomAD v2: 16-16248884-C-T
• gnomAD v3: 16-16155027-C-T
• gnomAD v4: 16-16155027-C-T
• MyVariant Identifiers: chr16:g.16248884C>T (hg19) ; chr16:g.16155027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155027C>T , CM000678.2:g.16155027C>T	GRCh38
NC_000016.9:g.16248884C>T , CM000678.1:g.16248884C>T	GRCh37
NC_000016.8:g.16156385C>T	NCBI36
NG_007558.2:g.73445G>A
NG_007558.3:g.73591G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.750G>A
ENST00000622290.5:c.*59G>A	ENSP00000483331.2:n.*59G>A
ENST00000205557.12:c.3887G>A MANE Select	ENSP00000205557.7:p.Gly1296Asp
ENST00000640696.1:c.701G>A	ENSP00000492197.1:p.Gly234Asp
ENST00000205557.11:c.3887G>A	ENSP00000205557.7:p.Gly1296Asp
ENST00000456970.6:c.3512G>A	ENSP00000405002.2:n.3512G>A
ENST00000576204.5:n.750G>A
ENST00000622290.4:c.*1096G>A	ENSP00000483331.1:n.*1096G>A
NM_001171.5:c.3887G>A	NP_001162.4:p.Gly1296Asp
XM_011522479.1:c.3854G>A	XP_011520781.1:p.Gly1285Asp
XM_011522480.1:c.3545G>A	XP_011520782.1:p.Gly1182Asp
XM_011522481.1:c.3545G>A	XP_011520783.1:p.Gly1182Asp
XR_932836.1:n.4185G>A
XR_932837.1:n.3923G>A
XR_932838.1:n.3986G>A
XR_933134.1:n.539-4754C>T
NM_001351800.1:c.3545G>A	NP_001338729.1:p.Gly1182Asp
NR_147784.1:n.3549G>A
XM_011522479.2:c.3854G>A	XP_011520781.1:p.Gly1285Asp
XM_011522481.3:c.3545G>A	XP_011520783.1:p.Gly1182Asp
XM_017023212.1:c.3719G>A	XP_016878701.1:p.Gly1240Asp
XM_024450261.1:c.3923G>A	XP_024306029.1:p.Gly1308Asp
XR_932836.2:n.4131G>A
XR_932837.3:n.3868G>A
XR_932838.3:n.3931G>A
NM_001171.6:c.3887G>A MANE Select	NP_001162.5:p.Gly1296Asp