Canonical Allele Identifier: CA7925496

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433393
• ClinVar RCV Id: RCV000499039 ; RCV002524117
• dbSNP Id: rs72664212
• ExAC: 16:16253443 G / T
• gnomAD v2: 16-16253443-G-T
• gnomAD v3: 16-16159586-G-T
• gnomAD v4: 16-16159586-G-T
• MyVariant Identifiers: chr16:g.16253443G>T (hg19) ; chr16:g.16159586G>T (hg38)
• PubMed: PMID:15086542

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159586G>T , CM000678.2:g.16159586G>T	GRCh38
NC_000016.9:g.16253443G>T , CM000678.1:g.16253443G>T	GRCh37
NC_000016.8:g.16160944G>T	NCBI36
NG_007558.2:g.68886C>A
NG_007558.3:g.69032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3634-3C>A	ENSP00000483331.2:n.3634-3C>A
ENST00000205557.12:c.3634-3C>A MANE Select	ENSP00000205557.7:n.3634-3C>A
ENST00000640696.1:c.448-3C>A	ENSP00000492197.1:n.448-3C>A
ENST00000205557.11:c.3634-3C>A	ENSP00000205557.7:n.3634-3C>A
ENST00000456970.6:c.3259-3C>A	ENSP00000405002.2:n.3259-3C>A
ENST00000622290.4:c.*843-3C>A	ENSP00000483331.1:n.*843-3C>A
NM_001171.5:c.3634-3C>A	NP_001162.4:n.3634-3C>A
XM_011522479.1:c.3601-3C>A	XP_011520781.1:n.3601-3C>A
XM_011522480.1:c.3292-3C>A	XP_011520782.1:n.3292-3C>A
XM_011522481.1:c.3292-3C>A	XP_011520783.1:n.3292-3C>A
XR_932836.1:n.3869-3C>A
XR_932837.1:n.3670-3C>A
XR_932838.1:n.3670-3C>A
XR_933134.1:n.539-195G>T
NM_001351800.1:c.3292-3C>A	NP_001338729.1:n.3292-3C>A
NR_147784.1:n.3296-3C>A
XM_011522479.2:c.3601-3C>A	XP_011520781.1:n.3601-3C>A
XM_011522481.3:c.3292-3C>A	XP_011520783.1:n.3292-3C>A
XM_017023212.1:c.3466-3C>A	XP_016878701.1:n.3466-3C>A
XM_024450261.1:c.3670-3C>A	XP_024306029.1:n.3670-3C>A
XR_932836.2:n.3815-3C>A
XR_932837.3:n.3615-3C>A
XR_932838.3:n.3615-3C>A
NM_001171.6:c.3634-3C>A MANE Select	NP_001162.5:n.3634-3C>A