Canonical Allele Identifier: CA278625481

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1515569
• ClinVar RCV Id: RCV002021190 ; RCV002486723
• dbSNP Id: rs929166866
• gnomAD v2: 16-16248794-T-C
• gnomAD v3: 16-16154937-T-C
• gnomAD v4: 16-16154937-T-C
• MyVariant Identifiers: chr16:g.16248794T>C (hg19) ; chr16:g.16154937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154937T>C , CM000678.2:g.16154937T>C	GRCh38
NC_000016.9:g.16248794T>C , CM000678.1:g.16248794T>C	GRCh37
NC_000016.8:g.16156295T>C	NCBI36
NG_007558.2:g.73535A>G
NG_007558.3:g.73681A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.840A>G
ENST00000622290.5:c.*149A>G	ENSP00000483331.2:n.*149A>G
ENST00000205557.12:c.3977A>G MANE Select	ENSP00000205557.7:p.Asp1326Gly
ENST00000640696.1:c.791A>G	ENSP00000492197.1:p.Asp264Gly
ENST00000205557.11:c.3977A>G	ENSP00000205557.7:p.Asp1326Gly
ENST00000456970.6:c.3602A>G	ENSP00000405002.2:n.3602A>G
ENST00000576204.5:n.840A>G
ENST00000622290.4:c.*1186A>G	ENSP00000483331.1:n.*1186A>G
NM_001171.5:c.3977A>G	NP_001162.4:p.Asp1326Gly
XM_011522479.1:c.3944A>G	XP_011520781.1:p.Asp1315Gly
XM_011522480.1:c.3635A>G	XP_011520782.1:p.Asp1212Gly
XM_011522481.1:c.3635A>G	XP_011520783.1:p.Asp1212Gly
XR_933134.1:n.539-4844T>C
NM_001351800.1:c.3635A>G	NP_001338729.1:p.Asp1212Gly
NR_147784.1:n.3639A>G
XM_011522479.2:c.3944A>G	XP_011520781.1:p.Asp1315Gly
XM_011522481.3:c.3635A>G	XP_011520783.1:p.Asp1212Gly
XM_017023212.1:c.3809A>G	XP_016878701.1:p.Asp1270Gly
XM_024450261.1:c.4013A>G	XP_024306029.1:p.Asp1338Gly
NM_001171.6:c.3977A>G MANE Select	NP_001162.5:p.Asp1326Gly