Canonical Allele Identifier: CA394875624

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154932-C-T
• MyVariant Identifiers: chr16:g.16248789C>T (hg19) ; chr16:g.16154932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154932C>T , CM000678.2:g.16154932C>T	GRCh38
NC_000016.9:g.16248789C>T , CM000678.1:g.16248789C>T	GRCh37
NC_000016.8:g.16156290C>T	NCBI36
NG_007558.2:g.73540G>A
NG_007558.3:g.73686G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.845G>A
ENST00000622290.5:c.*154G>A	ENSP00000483331.2:n.*154G>A
ENST00000205557.12:c.3982G>A MANE Select	ENSP00000205557.7:p.Val1328Ile
ENST00000640696.1:c.796G>A	ENSP00000492197.1:p.Val266Ile
ENST00000205557.11:c.3982G>A	ENSP00000205557.7:p.Val1328Ile
ENST00000456970.6:c.3607G>A	ENSP00000405002.2:n.3607G>A
ENST00000576204.5:n.845G>A
ENST00000622290.4:c.*1191G>A	ENSP00000483331.1:n.*1191G>A
NM_001171.5:c.3982G>A	NP_001162.4:p.Val1328Ile
XM_011522479.1:c.3949G>A	XP_011520781.1:p.Val1317Ile
XM_011522480.1:c.3640G>A	XP_011520782.1:p.Val1214Ile
XM_011522481.1:c.3640G>A	XP_011520783.1:p.Val1214Ile
XR_933134.1:n.539-4849C>T
NM_001351800.1:c.3640G>A	NP_001338729.1:p.Val1214Ile
NR_147784.1:n.3644G>A
XM_011522479.2:c.3949G>A	XP_011520781.1:p.Val1317Ile
XM_011522481.3:c.3640G>A	XP_011520783.1:p.Val1214Ile
XM_017023212.1:c.3814G>A	XP_016878701.1:p.Val1272Ile
XM_024450261.1:c.4018G>A	XP_024306029.1:p.Val1340Ile
NM_001171.6:c.3982G>A MANE Select	NP_001162.5:p.Val1328Ile