Canonical Allele Identifier: CA7925541

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433401
• ClinVar RCV Id: RCV000499077 ; RCV001536007 ; RCV001782998
• dbSNP Id: rs72664210
• ExAC: 16:16255422 C / T
• gnomAD v2: 16-16255422-C-T
• gnomAD v3: 16-16161565-C-T
• gnomAD v4: 16-16161565-C-T
• COSMIC: COSM3887985
• MyVariant Identifiers: chr16:g.16255422C>T (hg19) ; chr16:g.16161565C>T (hg38)
• PubMed: PMID:16086317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16161565C>T , CM000678.2:g.16161565C>T	GRCh38
NC_000016.9:g.16255422C>T , CM000678.1:g.16255422C>T	GRCh37
NC_000016.8:g.16162923C>T	NCBI36
NG_007558.2:g.66907G>A
NG_007558.3:g.67053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3507-1G>A	ENSP00000483331.2:n.3507-1G>A
ENST00000205557.12:c.3507-1G>A MANE Select	ENSP00000205557.7:n.3507-1G>A
ENST00000640696.1:c.321-1G>A	ENSP00000492197.1:n.321-1G>A
ENST00000205557.11:c.3507-1G>A	ENSP00000205557.7:n.3507-1G>A
ENST00000456970.6:c.3132-1G>A	ENSP00000405002.2:n.3132-1G>A
ENST00000622290.4:c.*716-1G>A	ENSP00000483331.1:n.*716-1G>A
NM_001171.5:c.3507-1G>A	NP_001162.4:n.3507-1G>A
XM_011522479.1:c.3474-1G>A	XP_011520781.1:n.3474-1G>A
XM_011522480.1:c.3165-1G>A	XP_011520782.1:n.3165-1G>A
XM_011522481.1:c.3165-1G>A	XP_011520783.1:n.3165-1G>A
XR_932836.1:n.3742-1G>A
XR_932837.1:n.3543-1G>A
XR_932838.1:n.3543-1G>A
XR_933133.1:n.260-1131C>T
XR_933134.1:n.607-1131C>T
NM_001351800.1:c.3165-1G>A	NP_001338729.1:n.3165-1G>A
NR_147784.1:n.3169-1G>A
XM_011522479.2:c.3474-1G>A	XP_011520781.1:n.3474-1G>A
XM_011522481.3:c.3165-1G>A	XP_011520783.1:n.3165-1G>A
XM_017023212.1:c.3339-1G>A	XP_016878701.1:n.3339-1G>A
XM_017023214.1:c.3307-1G>A	XP_016878703.1:n.3307-1G>A
XM_024450261.1:c.3543-1G>A	XP_024306029.1:n.3543-1G>A
XR_932836.2:n.3688-1G>A
XR_932837.3:n.3488-1G>A
XR_932838.3:n.3488-1G>A
NM_001171.6:c.3507-1G>A MANE Select	NP_001162.5:n.3507-1G>A