Canonical Allele Identifier: CA394888480

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433454
• ClinVar RCV Id: RCV000499175 ; RCV003558412
• dbSNP Id: rs114303883
• MyVariant Identifiers: chr16:g.16276391C>A (hg19) ; chr16:g.16182534C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16182534C>A , CM000678.2:g.16182534C>A	GRCh38
NC_000016.9:g.16276391C>A , CM000678.1:g.16276391C>A	GRCh37
NC_000016.8:g.16183892C>A	NCBI36
NG_007558.2:g.45938G>T
NG_007558.3:g.46084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2125G>T	ENSP00000483331.2:p.Glu709Ter
ENST00000205557.12:c.2125G>T MANE Select	ENSP00000205557.7:p.Glu709Ter
ENST00000205557.11:c.2125G>T	ENSP00000205557.7:p.Glu709Ter
ENST00000456970.6:c.2125G>T	ENSP00000405002.2:p.Glu709Ter
ENST00000574094.5:n.2040-609G>T
ENST00000622290.4:c.2125G>T	ENSP00000483331.1:p.Glu709Ter
NM_001171.5:c.2125G>T	NP_001162.4:p.Glu709Ter
XM_011522479.1:c.2125G>T	XP_011520781.1:p.Glu709Ter
XM_011522480.1:c.1783G>T	XP_011520782.1:p.Glu595Ter
XM_011522481.1:c.1783G>T	XP_011520783.1:p.Glu595Ter
XM_011522482.1:c.2125G>T	XP_011520784.1:p.Glu709Ter
XR_932836.1:n.2360G>T
XR_932837.1:n.2361G>T
XR_932838.1:n.2361G>T
NM_001351800.1:c.1783G>T	NP_001338729.1:p.Glu595Ter
NR_147784.1:n.2162G>T
XM_011522479.2:c.2125G>T	XP_011520781.1:p.Glu709Ter
XM_011522481.3:c.1783G>T	XP_011520783.1:p.Glu595Ter
XM_011522482.3:c.2125G>T	XP_011520784.1:p.Glu709Ter
XM_017023212.1:c.2125G>T	XP_016878701.1:p.Glu709Ter
XM_017023214.1:c.2125G>T	XP_016878703.1:p.Glu709Ter
XM_024450261.1:c.2161G>T	XP_024306029.1:p.Glu721Ter
XR_932836.2:n.2306G>T
XR_932837.3:n.2306G>T
XR_932838.3:n.2306G>T
NM_001171.6:c.2125G>T MANE Select	NP_001162.5:p.Glu709Ter