Canonical Allele Identifier: CA493797189

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1155847
• ClinVar RCV Id: RCV001498288
• dbSNP Id: rs2046492851
• gnomAD v3: 16-16154891-C-T
• gnomAD v4: 16-16154891-C-T
• MyVariant Identifiers: chr16:g.16248748C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154891C>T , CM000678.2:g.16154891C>T	GRCh38
NC_000016.9:g.16248748C>T , CM000678.1:g.16248748C>T	GRCh37
NC_000016.8:g.16156249C>T	NCBI36
NG_007558.2:g.73581G>A
NG_007558.3:g.73727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.886G>A
ENST00000622290.5:c.*195G>A	ENSP00000483331.2:n.*195G>A
ENST00000205557.12:c.4023G>A MANE Select	ENSP00000205557.7:p.Arg1341=
ENST00000640696.1:c.837G>A	ENSP00000492197.1:p.Arg279=
ENST00000205557.11:c.4023G>A	ENSP00000205557.7:p.Arg1341=
ENST00000456970.6:c.3648G>A	ENSP00000405002.2:n.3648G>A
ENST00000576204.5:n.886G>A
ENST00000622290.4:c.*1232G>A	ENSP00000483331.1:n.*1232G>A
NM_001171.5:c.4023G>A	NP_001162.4:p.Arg1341=
XM_011522479.1:c.3990G>A	XP_011520781.1:p.Arg1330=
XM_011522480.1:c.3681G>A	XP_011520782.1:p.Arg1227=
XM_011522481.1:c.3681G>A	XP_011520783.1:p.Arg1227=
XR_933134.1:n.539-4890C>T
NM_001351800.1:c.3681G>A	NP_001338729.1:p.Arg1227=
NR_147784.1:n.3685G>A
XM_011522479.2:c.3990G>A	XP_011520781.1:p.Arg1330=
XM_011522481.3:c.3681G>A	XP_011520783.1:p.Arg1227=
XM_017023212.1:c.3855G>A	XP_016878701.1:p.Arg1285=
XM_024450261.1:c.4059G>A	XP_024306029.1:p.Arg1353=
NM_001171.6:c.4023G>A MANE Select	NP_001162.5:p.Arg1341=