Canonical Allele Identifier: CA129119

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 6574
• ClinVar RCV Id: RCV000006952 ; RCV000023274 ; RCV002512860
• dbSNP Id: rs63750273
• ExAC: 16:16251667 C / T
• gnomAD v2: 16-16251667-C-T
• gnomAD v3: 16-16157810-C-T
• gnomAD v4: 16-16157810-C-T
• MyVariant Identifiers: chr16:g.16251667C>T (hg19) ; chr16:g.16157810C>T (hg38)
• PubMed: PMID:11179012 ; PMID:22209248

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157810C>T , CM000678.2:g.16157810C>T	GRCh38
NC_000016.9:g.16251667C>T , CM000678.1:g.16251667C>T	GRCh37
NC_000016.8:g.16159168C>T	NCBI36
NG_007558.2:g.70662G>A
NG_007558.3:g.70808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3736-1G>A	ENSP00000483331.2:n.3736-1G>A
ENST00000205557.12:c.3736-1G>A MANE Select	ENSP00000205557.7:n.3736-1G>A
ENST00000640696.1:c.550-1G>A	ENSP00000492197.1:n.550-1G>A
ENST00000205557.11:c.3736-1G>A	ENSP00000205557.7:n.3736-1G>A
ENST00000456970.6:c.3361-1G>A	ENSP00000405002.2:n.3361-1G>A
ENST00000622290.4:c.*945-1G>A	ENSP00000483331.1:n.*945-1G>A
NM_001171.5:c.3736-1G>A	NP_001162.4:n.3736-1G>A
XM_011522479.1:c.3703-1G>A	XP_011520781.1:n.3703-1G>A
XM_011522480.1:c.3394-1G>A	XP_011520782.1:n.3394-1G>A
XM_011522481.1:c.3394-1G>A	XP_011520783.1:n.3394-1G>A
XR_932836.1:n.3971-1G>A
XR_932837.1:n.3772-1G>A
XR_932838.1:n.3772-1G>A
XR_933134.1:n.539-1971C>T
NM_001351800.1:c.3394-1G>A	NP_001338729.1:n.3394-1G>A
NR_147784.1:n.3398-1G>A
XM_011522479.2:c.3703-1G>A	XP_011520781.1:n.3703-1G>A
XM_011522481.3:c.3394-1G>A	XP_011520783.1:n.3394-1G>A
XM_017023212.1:c.3568-1G>A	XP_016878701.1:n.3568-1G>A
XM_024450261.1:c.3772-1G>A	XP_024306029.1:n.3772-1G>A
XR_932836.2:n.3917-1G>A
XR_932837.3:n.3717-1G>A
XR_932838.3:n.3717-1G>A
NM_001171.6:c.3736-1G>A MANE Select	NP_001162.5:n.3736-1G>A