Canonical Allele Identifier: CA394891916

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433458
• ClinVar RCV Id: RCV000499234
• dbSNP Id: rs1555520991
• MyVariant Identifiers: chr16:g.16306105T>C (hg19) ; chr16:g.16212248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16212248T>C , CM000678.2:g.16212248T>C	GRCh38
NC_000016.9:g.16306105T>C , CM000678.1:g.16306105T>C	GRCh37
NC_000016.8:g.16213606T>C	NCBI36
NG_007558.2:g.16224A>G
NG_007558.3:g.16370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.601-2A>G	ENSP00000507301.1:n.601-2A>G
ENST00000622290.5:c.601-2A>G	ENSP00000483331.2:n.601-2A>G
ENST00000205557.12:c.601-2A>G MANE Select	ENSP00000205557.7:n.601-2A>G
ENST00000205557.11:c.601-2A>G	ENSP00000205557.7:n.601-2A>G
ENST00000456970.6:c.601-2A>G	ENSP00000405002.2:n.601-2A>G
ENST00000574094.5:n.697-2A>G
ENST00000577103.1:c.*468-2A>G	ENSP00000459243.1:n.*468-2A>G
ENST00000622290.4:c.601-2A>G	ENSP00000483331.1:n.601-2A>G
NM_001171.5:c.601-2A>G	NP_001162.4:n.601-2A>G
XM_011522479.1:c.601-2A>G	XP_011520781.1:n.601-2A>G
XM_011522480.1:c.259-2A>G	XP_011520782.1:n.259-2A>G
XM_011522481.1:c.259-2A>G	XP_011520783.1:n.259-2A>G
XM_011522482.1:c.601-2A>G	XP_011520784.1:n.601-2A>G
XR_932836.1:n.836-2A>G
XR_932837.1:n.837-2A>G
XR_932838.1:n.837-2A>G
XR_933131.1:n.381+157T>C
XR_933132.1:n.381+157T>C
NM_001351800.1:c.259-2A>G	NP_001338729.1:n.259-2A>G
NR_147784.1:n.638-2A>G
XM_011522479.2:c.601-2A>G	XP_011520781.1:n.601-2A>G
XM_011522481.3:c.259-2A>G	XP_011520783.1:n.259-2A>G
XM_011522482.3:c.601-2A>G	XP_011520784.1:n.601-2A>G
XM_017023212.1:c.601-2A>G	XP_016878701.1:n.601-2A>G
XM_017023214.1:c.601-2A>G	XP_016878703.1:n.601-2A>G
XM_024450261.1:c.637-2A>G	XP_024306029.1:n.637-2A>G
XR_001752340.1:n.389+157T>C
XR_001752341.1:n.389+157T>C
XR_001752342.1:n.389+157T>C
XR_932836.2:n.782-2A>G
XR_932837.3:n.782-2A>G
XR_932838.3:n.782-2A>G
XR_933131.2:n.389+157T>C
XR_933132.2:n.389+157T>C
NM_001171.6:c.601-2A>G MANE Select	NP_001162.5:n.601-2A>G