Canonical Allele Identifier: CA394876081

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2009930
• ClinVar RCV Id: RCV002842789
• MyVariant Identifiers: chr16:g.16248860C>T (hg19) ; chr16:g.16155003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155003C>T , CM000678.2:g.16155003C>T	GRCh38
NC_000016.9:g.16248860C>T , CM000678.1:g.16248860C>T	GRCh37
NC_000016.8:g.16156361C>T	NCBI36
NG_007558.2:g.73469G>A
NG_007558.3:g.73615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.774G>A
ENST00000622290.5:c.*83G>A	ENSP00000483331.2:n.*83G>A
ENST00000205557.12:c.3911G>A MANE Select	ENSP00000205557.7:p.Gly1304Glu
ENST00000640696.1:c.725G>A	ENSP00000492197.1:p.Gly242Glu
ENST00000205557.11:c.3911G>A	ENSP00000205557.7:p.Gly1304Glu
ENST00000456970.6:c.3536G>A	ENSP00000405002.2:n.3536G>A
ENST00000576204.5:n.774G>A
ENST00000622290.4:c.*1120G>A	ENSP00000483331.1:n.*1120G>A
NM_001171.5:c.3911G>A	NP_001162.4:p.Gly1304Glu
XM_011522479.1:c.3878G>A	XP_011520781.1:p.Gly1293Glu
XM_011522480.1:c.3569G>A	XP_011520782.1:p.Gly1190Glu
XM_011522481.1:c.3569G>A	XP_011520783.1:p.Gly1190Glu
XR_932836.1:n.4209G>A
XR_932837.1:n.3947G>A
XR_932838.1:n.4010G>A
XR_933134.1:n.539-4778C>T
NM_001351800.1:c.3569G>A	NP_001338729.1:p.Gly1190Glu
NR_147784.1:n.3573G>A
XM_011522479.2:c.3878G>A	XP_011520781.1:p.Gly1293Glu
XM_011522481.3:c.3569G>A	XP_011520783.1:p.Gly1190Glu
XM_017023212.1:c.3743G>A	XP_016878701.1:p.Gly1248Glu
XM_024450261.1:c.3947G>A	XP_024306029.1:p.Gly1316Glu
XR_932836.2:n.4155G>A
XR_932837.3:n.3892G>A
XR_932838.3:n.3955G>A
NM_001171.6:c.3911G>A MANE Select	NP_001162.5:p.Gly1304Glu