Canonical Allele Identifier: CA394879495

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433478
• ClinVar RCV Id: RCV000499312
• dbSNP Id: rs1555508604
• MyVariant Identifiers: chr16:g.16255294C>T (hg19) ; chr16:g.16161437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16161437C>T , CM000678.2:g.16161437C>T	GRCh38
NC_000016.9:g.16255294C>T , CM000678.1:g.16255294C>T	GRCh37
NC_000016.8:g.16162795C>T	NCBI36
NG_007558.2:g.67035G>A
NG_007558.3:g.67181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3633+1G>A	ENSP00000483331.2:n.3633+1G>A
ENST00000205557.12:c.3633+1G>A MANE Select	ENSP00000205557.7:n.3633+1G>A
ENST00000640696.1:c.447+1G>A	ENSP00000492197.1:n.447+1G>A
ENST00000205557.11:c.3633+1G>A	ENSP00000205557.7:n.3633+1G>A
ENST00000456970.6:c.3258+1G>A	ENSP00000405002.2:n.3258+1G>A
ENST00000622290.4:c.*842+1G>A	ENSP00000483331.1:n.*842+1G>A
NM_001171.5:c.3633+1G>A	NP_001162.4:n.3633+1G>A
XM_011522479.1:c.3600+1G>A	XP_011520781.1:n.3600+1G>A
XM_011522480.1:c.3291+1G>A	XP_011520782.1:n.3291+1G>A
XM_011522481.1:c.3291+1G>A	XP_011520783.1:n.3291+1G>A
XR_932836.1:n.3868+1G>A
XR_932837.1:n.3669+1G>A
XR_932838.1:n.3669+1G>A
XR_933133.1:n.260-1259C>T
XR_933134.1:n.607-1259C>T
NM_001351800.1:c.3291+1G>A	NP_001338729.1:n.3291+1G>A
NR_147784.1:n.3295+1G>A
XM_011522479.2:c.3600+1G>A	XP_011520781.1:n.3600+1G>A
XM_011522481.3:c.3291+1G>A	XP_011520783.1:n.3291+1G>A
XM_017023212.1:c.3465+1G>A	XP_016878701.1:n.3465+1G>A
XM_017023214.1:c.3434G>A	XP_016878703.1:p.Gly1145Asp
XM_024450261.1:c.3669+1G>A	XP_024306029.1:n.3669+1G>A
XR_932836.2:n.3814+1G>A
XR_932837.3:n.3614+1G>A
XR_932838.3:n.3614+1G>A
NM_001171.6:c.3633+1G>A MANE Select	NP_001162.5:n.3633+1G>A