Canonical Allele Identifier: CA7925574

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433495
• ClinVar RCV Id: RCV000499315
• dbSNP Id: rs772050759
• ExAC: 16:16256881 T / C
• gnomAD v2: 16-16256881-T-C
• gnomAD v4: 16-16163024-T-C
• MyVariant Identifiers: chr16:g.16256881T>C (hg19) ; chr16:g.16163024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163024T>C , CM000678.2:g.16163024T>C	GRCh38
NC_000016.9:g.16256881T>C , CM000678.1:g.16256881T>C	GRCh37
NC_000016.8:g.16164382T>C	NCBI36
NG_007558.2:g.65448A>G
NG_007558.3:g.65594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3475A>G	ENSP00000483331.2:p.Arg1159Gly
ENST00000205557.12:c.3475A>G MANE Select	ENSP00000205557.7:p.Arg1159Gly
ENST00000640696.1:c.321-1460A>G	ENSP00000492197.1:n.321-1460A>G
ENST00000205557.11:c.3475A>G	ENSP00000205557.7:p.Arg1159Gly
ENST00000456970.6:c.3132-1460A>G	ENSP00000405002.2:n.3132-1460A>G
ENST00000622290.4:c.*684A>G	ENSP00000483331.1:n.*684A>G
NM_001171.5:c.3475A>G	NP_001162.4:p.Arg1159Gly
XM_011522479.1:c.3442A>G	XP_011520781.1:p.Arg1148Gly
XM_011522480.1:c.3133A>G	XP_011520782.1:p.Arg1045Gly
XM_011522481.1:c.3133A>G	XP_011520783.1:p.Arg1045Gly
XR_932836.1:n.3710A>G
XR_932837.1:n.3543-1460A>G
XR_932838.1:n.3543-1460A>G
XR_933133.1:n.407+181T>C
XR_933134.1:n.754+181T>C
NM_001351800.1:c.3133A>G	NP_001338729.1:p.Arg1045Gly
NR_147784.1:n.3169-1460A>G
XM_011522479.2:c.3442A>G	XP_011520781.1:p.Arg1148Gly
XM_011522481.3:c.3133A>G	XP_011520783.1:p.Arg1045Gly
XM_017023212.1:c.3307A>G	XP_016878701.1:p.Arg1103Gly
XM_017023214.1:c.3307-1460A>G	XP_016878703.1:n.3307-1460A>G
XM_024450261.1:c.3511A>G	XP_024306029.1:p.Arg1171Gly
XR_932836.2:n.3656A>G
XR_932837.3:n.3488-1460A>G
XR_932838.3:n.3488-1460A>G
NM_001171.6:c.3475A>G MANE Select	NP_001162.5:p.Arg1159Gly