Canonical Allele Identifier: CA278628730

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433211
• ClinVar RCV Id: RCV000499086 ; RCV002527163
• dbSNP Id: rs72653748
• gnomAD v2: 16-16253352-C-T
• gnomAD v3: 16-16159495-C-T
• gnomAD v4: 16-16159495-C-T
• MyVariant Identifiers: chr16:g.16253352C>T (hg19) ; chr16:g.16159495C>T (hg38)
• PubMed: PMID:17617515

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159495C>T , CM000678.2:g.16159495C>T	GRCh38
NC_000016.9:g.16253352C>T , CM000678.1:g.16253352C>T	GRCh37
NC_000016.8:g.16160853C>T	NCBI36
NG_007558.2:g.68977G>A
NG_007558.3:g.69123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3722G>A	ENSP00000483331.2:p.Trp1241Ter
ENST00000205557.12:c.3722G>A MANE Select	ENSP00000205557.7:p.Trp1241Ter
ENST00000640696.1:c.536G>A	ENSP00000492197.1:p.Trp179Ter
ENST00000205557.11:c.3722G>A	ENSP00000205557.7:p.Trp1241Ter
ENST00000456970.6:c.3347G>A	ENSP00000405002.2:n.3347G>A
ENST00000622290.4:c.*931G>A	ENSP00000483331.1:n.*931G>A
NM_001171.5:c.3722G>A	NP_001162.4:p.Trp1241Ter
XM_011522479.1:c.3689G>A	XP_011520781.1:p.Trp1230Ter
XM_011522480.1:c.3380G>A	XP_011520782.1:p.Trp1127Ter
XM_011522481.1:c.3380G>A	XP_011520783.1:p.Trp1127Ter
XR_932836.1:n.3957G>A
XR_932837.1:n.3758G>A
XR_932838.1:n.3758G>A
XR_933134.1:n.539-286C>T
NM_001351800.1:c.3380G>A	NP_001338729.1:p.Trp1127Ter
NR_147784.1:n.3384G>A
XM_011522479.2:c.3689G>A	XP_011520781.1:p.Trp1230Ter
XM_011522481.3:c.3380G>A	XP_011520783.1:p.Trp1127Ter
XM_017023212.1:c.3554G>A	XP_016878701.1:p.Trp1185Ter
XM_024450261.1:c.3758G>A	XP_024306029.1:p.Trp1253Ter
XR_932836.2:n.3903G>A
XR_932837.3:n.3703G>A
XR_932838.3:n.3703G>A
NM_001171.6:c.3722G>A MANE Select	NP_001162.5:p.Trp1241Ter