Canonical Allele Identifier: CA129120

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 30337
• ClinVar RCV Id: RCV000023275 ; RCV000023276 ; RCV001090336
• dbSNP Id: rs67561842
• ExAC: 16:16272776 C / T
• gnomAD v2: 16-16272776-C-T
• gnomAD v3: 16-16178919-C-T
• gnomAD v4: 16-16178919-C-T
• MyVariant Identifiers: chr16:g.16272776C>T (hg19) ; chr16:g.16178919C>T (hg38)
• PubMed: PMID:11536079 ; PMID:16086317 ; PMID:20034067

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16178919C>T , CM000678.2:g.16178919C>T	GRCh38
NC_000016.9:g.16272776C>T , CM000678.1:g.16272776C>T	GRCh37
NC_000016.8:g.16180277C>T	NCBI36
NG_007558.2:g.49553G>A
NG_007558.3:g.49699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2294G>A	ENSP00000483331.2:p.Arg765Gln
ENST00000205557.12:c.2294G>A MANE Select	ENSP00000205557.7:p.Arg765Gln
ENST00000205557.11:c.2294G>A	ENSP00000205557.7:p.Arg765Gln
ENST00000456970.6:c.2294G>A	ENSP00000405002.2:p.Arg765Gln
ENST00000622290.4:c.2294G>A	ENSP00000483331.1:p.Arg765Gln
NM_001171.5:c.2294G>A	NP_001162.4:p.Arg765Gln
XM_011522479.1:c.2294G>A	XP_011520781.1:p.Arg765Gln
XM_011522480.1:c.1952G>A	XP_011520782.1:p.Arg651Gln
XM_011522481.1:c.1952G>A	XP_011520783.1:p.Arg651Gln
XM_011522482.1:c.2294G>A	XP_011520784.1:p.Arg765Gln
XR_932836.1:n.2529G>A
XR_932837.1:n.2530G>A
XR_932838.1:n.2530G>A
NM_001351800.1:c.1952G>A	NP_001338729.1:p.Arg651Gln
NR_147784.1:n.2331G>A
XM_011522479.2:c.2294G>A	XP_011520781.1:p.Arg765Gln
XM_011522481.3:c.1952G>A	XP_011520783.1:p.Arg651Gln
XM_011522482.3:c.2294G>A	XP_011520784.1:p.Arg765Gln
XM_017023212.1:c.2248-1293G>A	XP_016878701.1:n.2248-1293G>A
XM_017023214.1:c.2294G>A	XP_016878703.1:p.Arg765Gln
XM_024450261.1:c.2330G>A	XP_024306029.1:p.Arg777Gln
XR_932836.2:n.2475G>A
XR_932837.3:n.2475G>A
XR_932838.3:n.2475G>A
NM_001171.6:c.2294G>A MANE Select	NP_001162.5:p.Arg765Gln