Canonical Allele Identifier: CA975106991

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046641856
• gnomAD v3: 16-16159423-A-C
• gnomAD v4: 16-16159423-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159423A>C , CM000678.2:g.16159423A>C	GRCh38
NC_000016.9:g.16253280A>C , CM000678.1:g.16253280A>C	GRCh37
NC_000016.8:g.16160781A>C	NCBI36
NG_007558.2:g.69049T>G
NG_007558.3:g.69195T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+59T>G	ENSP00000483331.2:n.3735+59T>G
ENST00000205557.12:c.3735+59T>G MANE Select	ENSP00000205557.7:n.3735+59T>G
ENST00000640696.1:c.549+59T>G	ENSP00000492197.1:n.549+59T>G
ENST00000205557.11:c.3735+59T>G	ENSP00000205557.7:n.3735+59T>G
ENST00000456970.6:c.3360+59T>G	ENSP00000405002.2:n.3360+59T>G
ENST00000622290.4:c.*944+59T>G	ENSP00000483331.1:n.*944+59T>G
NM_001171.5:c.3735+59T>G	NP_001162.4:n.3735+59T>G
XM_011522479.1:c.3702+59T>G	XP_011520781.1:n.3702+59T>G
XM_011522480.1:c.3393+59T>G	XP_011520782.1:n.3393+59T>G
XM_011522481.1:c.3393+59T>G	XP_011520783.1:n.3393+59T>G
XR_932836.1:n.3970+59T>G
XR_932837.1:n.3771+59T>G
XR_932838.1:n.3771+59T>G
XR_933134.1:n.539-358A>C
NM_001351800.1:c.3393+59T>G	NP_001338729.1:n.3393+59T>G
NR_147784.1:n.3397+59T>G
XM_011522479.2:c.3702+59T>G	XP_011520781.1:n.3702+59T>G
XM_011522481.3:c.3393+59T>G	XP_011520783.1:n.3393+59T>G
XM_017023212.1:c.3567+59T>G	XP_016878701.1:n.3567+59T>G
XM_024450261.1:c.3771+59T>G	XP_024306029.1:n.3771+59T>G
XR_932836.2:n.3916+59T>G
XR_932837.3:n.3716+59T>G
XR_932838.3:n.3716+59T>G
NM_001171.6:c.3735+59T>G MANE Select	NP_001162.5:n.3735+59T>G