Canonical Allele Identifier: CA7925576

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1486738
• ClinVar RCV Id: RCV002003825 ; RCV002486538
• dbSNP Id: rs147794514
• ExAC: 16:16256896 C / T
• gnomAD v2: 16-16256896-C-T
• gnomAD v3: 16-16163039-C-T
• gnomAD v4: 16-16163039-C-T
• COSMIC: COSM3887986
• MyVariant Identifiers: chr16:g.16256896C>T (hg19) ; chr16:g.16163039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163039C>T , CM000678.2:g.16163039C>T	GRCh38
NC_000016.9:g.16256896C>T , CM000678.1:g.16256896C>T	GRCh37
NC_000016.8:g.16164397C>T	NCBI36
NG_007558.2:g.65433G>A
NG_007558.3:g.65579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3460G>A	ENSP00000483331.2:p.Val1154Ile
ENST00000205557.12:c.3460G>A MANE Select	ENSP00000205557.7:p.Val1154Ile
ENST00000640696.1:c.321-1475G>A	ENSP00000492197.1:n.321-1475G>A
ENST00000205557.11:c.3460G>A	ENSP00000205557.7:p.Val1154Ile
ENST00000456970.6:c.3132-1475G>A	ENSP00000405002.2:n.3132-1475G>A
ENST00000622290.4:c.*669G>A	ENSP00000483331.1:n.*669G>A
NM_001171.5:c.3460G>A	NP_001162.4:p.Val1154Ile
XM_011522479.1:c.3427G>A	XP_011520781.1:p.Val1143Ile
XM_011522480.1:c.3118G>A	XP_011520782.1:p.Val1040Ile
XM_011522481.1:c.3118G>A	XP_011520783.1:p.Val1040Ile
XR_932836.1:n.3695G>A
XR_932837.1:n.3543-1475G>A
XR_932838.1:n.3543-1475G>A
XR_933133.1:n.407+196C>T
XR_933134.1:n.754+196C>T
NM_001351800.1:c.3118G>A	NP_001338729.1:p.Val1040Ile
NR_147784.1:n.3169-1475G>A
XM_011522479.2:c.3427G>A	XP_011520781.1:p.Val1143Ile
XM_011522481.3:c.3118G>A	XP_011520783.1:p.Val1040Ile
XM_017023212.1:c.3292G>A	XP_016878701.1:p.Val1098Ile
XM_017023214.1:c.3307-1475G>A	XP_016878703.1:n.3307-1475G>A
XM_024450261.1:c.3496G>A	XP_024306029.1:p.Val1166Ile
XR_932836.2:n.3641G>A
XR_932837.3:n.3488-1475G>A
XR_932838.3:n.3488-1475G>A
NM_001171.6:c.3460G>A MANE Select	NP_001162.5:p.Val1154Ile