Canonical Allele Identifier: CA278664241

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1030271
• ClinVar RCV Id: RCV001331786 ; RCV002499653
• dbSNP Id: rs115663615
• gnomAD v3: 16-16198145-G-A
• gnomAD v4: 16-16198145-G-A
• MyVariant Identifiers: chr16:g.16292002G>A (hg19) ; chr16:g.16198145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198145G>A , CM000678.2:g.16198145G>A	GRCh38
NC_000016.9:g.16292002G>A , CM000678.1:g.16292002G>A	GRCh37
NC_000016.8:g.16199503G>A	NCBI36
NG_007558.2:g.30327C>T
NG_007558.3:g.30473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1214C>T	ENSP00000507301.1:p.Ala405Val
ENST00000622290.5:c.1214C>T	ENSP00000483331.2:p.Ala405Val
ENST00000205557.12:c.1214C>T MANE Select	ENSP00000205557.7:p.Ala405Val
ENST00000205557.11:c.1214C>T	ENSP00000205557.7:p.Ala405Val
ENST00000456970.6:c.1214C>T	ENSP00000405002.2:p.Ala405Val
ENST00000574094.5:n.1310C>T
ENST00000622290.4:c.1214C>T	ENSP00000483331.1:p.Ala405Val
NM_001171.5:c.1214C>T	NP_001162.4:p.Ala405Val
XM_011522479.1:c.1214C>T	XP_011520781.1:p.Ala405Val
XM_011522480.1:c.872C>T	XP_011520782.1:p.Ala291Val
XM_011522481.1:c.872C>T	XP_011520783.1:p.Ala291Val
XM_011522482.1:c.1214C>T	XP_011520784.1:p.Ala405Val
XR_932836.1:n.1449C>T
XR_932837.1:n.1450C>T
XR_932838.1:n.1450C>T
NM_001351800.1:c.872C>T	NP_001338729.1:p.Ala291Val
NR_147784.1:n.1251C>T
XM_011522479.2:c.1214C>T	XP_011520781.1:p.Ala405Val
XM_011522481.3:c.872C>T	XP_011520783.1:p.Ala291Val
XM_011522482.3:c.1214C>T	XP_011520784.1:p.Ala405Val
XM_017023212.1:c.1214C>T	XP_016878701.1:p.Ala405Val
XM_017023214.1:c.1214C>T	XP_016878703.1:p.Ala405Val
XM_024450261.1:c.1250C>T	XP_024306029.1:p.Ala417Val
XR_932836.2:n.1395C>T
XR_932837.3:n.1395C>T
XR_932838.3:n.1395C>T
NM_001171.6:c.1214C>T MANE Select	NP_001162.5:p.Ala405Val