Canonical Allele Identifier: CA7925351

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1660895
• ClinVar RCV Id: RCV002176296
• dbSNP Id: rs146265944
• ExAC: 16:16248763 G / A
• gnomAD v2: 16-16248763-G-A
• gnomAD v3: 16-16154906-G-A
• gnomAD v4: 16-16154906-G-A
• MyVariant Identifiers: chr16:g.16248763G>A (hg19) ; chr16:g.16154906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154906G>A , CM000678.2:g.16154906G>A	GRCh38
NC_000016.9:g.16248763G>A , CM000678.1:g.16248763G>A	GRCh37
NC_000016.8:g.16156264G>A	NCBI36
NG_007558.2:g.73566C>T
NG_007558.3:g.73712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.871C>T
ENST00000622290.5:c.*180C>T	ENSP00000483331.2:n.*180C>T
ENST00000205557.12:c.4008C>T MANE Select	ENSP00000205557.7:p.His1336=
ENST00000640696.1:c.822C>T	ENSP00000492197.1:p.His274=
ENST00000205557.11:c.4008C>T	ENSP00000205557.7:p.His1336=
ENST00000456970.6:c.3633C>T	ENSP00000405002.2:n.3633C>T
ENST00000576204.5:n.871C>T
ENST00000622290.4:c.*1217C>T	ENSP00000483331.1:n.*1217C>T
NM_001171.5:c.4008C>T	NP_001162.4:p.His1336=
XM_011522479.1:c.3975C>T	XP_011520781.1:p.His1325=
XM_011522480.1:c.3666C>T	XP_011520782.1:p.His1222=
XM_011522481.1:c.3666C>T	XP_011520783.1:p.His1222=
XR_933134.1:n.539-4875G>A
NM_001351800.1:c.3666C>T	NP_001338729.1:p.His1222=
NR_147784.1:n.3670C>T
XM_011522479.2:c.3975C>T	XP_011520781.1:p.His1325=
XM_011522481.3:c.3666C>T	XP_011520783.1:p.His1222=
XM_017023212.1:c.3840C>T	XP_016878701.1:p.His1280=
XM_024450261.1:c.4044C>T	XP_024306029.1:p.His1348=
NM_001171.6:c.4008C>T MANE Select	NP_001162.5:p.His1336=