Canonical Allele Identifier: CA394884689

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1391272
• ClinVar RCV Id: RCV001892993
• dbSNP Id: rs2152235635
• MyVariant Identifiers: chr16:g.16263609G>T (hg19) ; chr16:g.16169752G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169752G>T , CM000678.2:g.16169752G>T	GRCh38
NC_000016.9:g.16263609G>T , CM000678.1:g.16263609G>T	GRCh37
NC_000016.8:g.16171110G>T	NCBI36
NG_007558.2:g.58720C>A
NG_007558.3:g.58866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2889C>A	ENSP00000483331.2:p.Cys963Ter
ENST00000205557.12:c.2889C>A MANE Select	ENSP00000205557.7:p.Cys963Ter
ENST00000205557.11:c.2889C>A	ENSP00000205557.7:p.Cys963Ter
ENST00000456970.6:c.2714C>A	ENSP00000405002.2:n.2714C>A
ENST00000622290.4:c.*98C>A	ENSP00000483331.1:n.*98C>A
NM_001171.5:c.2889C>A	NP_001162.4:p.Cys963Ter
XM_011522479.1:c.2856C>A	XP_011520781.1:p.Cys952Ter
XM_011522480.1:c.2547C>A	XP_011520782.1:p.Cys849Ter
XM_011522481.1:c.2547C>A	XP_011520783.1:p.Cys849Ter
XR_932836.1:n.3124C>A
XR_932837.1:n.3125C>A
XR_932838.1:n.3125C>A
NM_001351800.1:c.2547C>A	NP_001338729.1:p.Cys849Ter
NR_147784.1:n.2751C>A
XM_011522479.2:c.2856C>A	XP_011520781.1:p.Cys952Ter
XM_011522481.3:c.2547C>A	XP_011520783.1:p.Cys849Ter
XM_017023212.1:c.2721C>A	XP_016878701.1:p.Cys907Ter
XM_017023214.1:c.2889C>A	XP_016878703.1:p.Cys963Ter
XM_024450261.1:c.2925C>A	XP_024306029.1:p.Cys975Ter
XR_932836.2:n.3070C>A
XR_932837.3:n.3070C>A
XR_932838.3:n.3070C>A
NM_001171.6:c.2889C>A MANE Select	NP_001162.5:p.Cys963Ter