Canonical Allele Identifier: CA7925752

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1441160
• ClinVar RCV Id: RCV001950573
• dbSNP Id: rs776512349
• ExAC: 16:16263589 A / T
• gnomAD v2: 16-16263589-A-T
• gnomAD v3: 16-16169732-A-T
• gnomAD v4: 16-16169732-A-T
• MyVariant Identifiers: chr16:g.16263589A>T (hg19) ; chr16:g.16169732A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169732A>T , CM000678.2:g.16169732A>T	GRCh38
NC_000016.9:g.16263589A>T , CM000678.1:g.16263589A>T	GRCh37
NC_000016.8:g.16171090A>T	NCBI36
NG_007558.2:g.58740T>A
NG_007558.3:g.58886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2909T>A	ENSP00000483331.2:p.Leu970Gln
ENST00000205557.12:c.2909T>A MANE Select	ENSP00000205557.7:p.Leu970Gln
ENST00000205557.11:c.2909T>A	ENSP00000205557.7:p.Leu970Gln
ENST00000456970.6:c.2734T>A	ENSP00000405002.2:n.2734T>A
ENST00000622290.4:c.*118T>A	ENSP00000483331.1:n.*118T>A
NM_001171.5:c.2909T>A	NP_001162.4:p.Leu970Gln
XM_011522479.1:c.2876T>A	XP_011520781.1:p.Leu959Gln
XM_011522480.1:c.2567T>A	XP_011520782.1:p.Leu856Gln
XM_011522481.1:c.2567T>A	XP_011520783.1:p.Leu856Gln
XR_932836.1:n.3144T>A
XR_932837.1:n.3145T>A
XR_932838.1:n.3145T>A
NM_001351800.1:c.2567T>A	NP_001338729.1:p.Leu856Gln
NR_147784.1:n.2771T>A
XM_011522479.2:c.2876T>A	XP_011520781.1:p.Leu959Gln
XM_011522481.3:c.2567T>A	XP_011520783.1:p.Leu856Gln
XM_017023212.1:c.2741T>A	XP_016878701.1:p.Leu914Gln
XM_017023214.1:c.2909T>A	XP_016878703.1:p.Leu970Gln
XM_024450261.1:c.2945T>A	XP_024306029.1:p.Leu982Gln
XR_932836.2:n.3090T>A
XR_932837.3:n.3090T>A
XR_932838.3:n.3090T>A
NM_001171.6:c.2909T>A MANE Select	NP_001162.5:p.Leu970Gln