Canonical Allele Identifier: CA394885493

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2793051
• ClinVar RCV Id: RCV003667613
• gnomAD v4: 16-16173290-G-C
• MyVariant Identifiers: chr16:g.16267147G>C (hg19) ; chr16:g.16173290G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173290G>C , CM000678.2:g.16173290G>C	GRCh38
NC_000016.9:g.16267147G>C , CM000678.1:g.16267147G>C	GRCh37
NC_000016.8:g.16174648G>C	NCBI36
NG_007558.2:g.55182C>G
NG_007558.3:g.55328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2781C>G	ENSP00000483331.2:p.Tyr927Ter
ENST00000205557.12:c.2781C>G MANE Select	ENSP00000205557.7:p.Tyr927Ter
ENST00000205557.11:c.2781C>G	ENSP00000205557.7:p.Tyr927Ter
ENST00000456970.6:c.2606C>G	ENSP00000405002.2:p.Thr869Arg
ENST00000576683.1:n.268C>G
ENST00000622290.4:c.2606C>G	ENSP00000483331.1:p.Thr869Arg
NM_001171.5:c.2781C>G	NP_001162.4:p.Tyr927Ter
XM_011522479.1:c.2748C>G	XP_011520781.1:p.Tyr916Ter
XM_011522480.1:c.2439C>G	XP_011520782.1:p.Tyr813Ter
XM_011522481.1:c.2439C>G	XP_011520783.1:p.Tyr813Ter
XR_932836.1:n.3016C>G
XR_932837.1:n.3017C>G
XR_932838.1:n.3017C>G
NM_001351800.1:c.2439C>G	NP_001338729.1:p.Tyr813Ter
NR_147784.1:n.2643C>G
XM_011522479.2:c.2748C>G	XP_011520781.1:p.Tyr916Ter
XM_011522481.3:c.2439C>G	XP_011520783.1:p.Tyr813Ter
XM_017023212.1:c.2613C>G	XP_016878701.1:p.Tyr871Ter
XM_017023214.1:c.2781C>G	XP_016878703.1:p.Tyr927Ter
XM_024450261.1:c.2817C>G	XP_024306029.1:p.Tyr939Ter
XR_932836.2:n.2962C>G
XR_932837.3:n.2962C>G
XR_932838.3:n.2962C>G
NM_001171.6:c.2781C>G MANE Select	NP_001162.5:p.Tyr927Ter