Canonical Allele Identifier: CA394875620

Gene: ABCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.845G>T
ENST00000622290.5:c.*154G>T	ENSP00000483331.2:n.*154G>T
ENST00000205557.12:c.3982G>T MANE Select	ENSP00000205557.7:p.Val1328Phe
ENST00000640696.1:c.796G>T	ENSP00000492197.1:p.Val266Phe
ENST00000205557.11:c.3982G>T	ENSP00000205557.7:p.Val1328Phe
ENST00000456970.6:c.3607G>T	ENSP00000405002.2:n.3607G>T
ENST00000576204.5:n.845G>T
ENST00000622290.4:c.*1191G>T	ENSP00000483331.1:n.*1191G>T
NM_001171.5:c.3982G>T	NP_001162.4:p.Val1328Phe
XM_011522479.1:c.3949G>T	XP_011520781.1:p.Val1317Phe
XM_011522480.1:c.3640G>T	XP_011520782.1:p.Val1214Phe
XM_011522481.1:c.3640G>T	XP_011520783.1:p.Val1214Phe
XR_933134.1:n.539-4849C>A
NM_001351800.1:c.3640G>T	NP_001338729.1:p.Val1214Phe
NR_147784.1:n.3644G>T
XM_011522479.2:c.3949G>T	XP_011520781.1:p.Val1317Phe
XM_011522481.3:c.3640G>T	XP_011520783.1:p.Val1214Phe
XM_017023212.1:c.3814G>T	XP_016878701.1:p.Val1272Phe
XM_024450261.1:c.4018G>T	XP_024306029.1:p.Val1340Phe
NM_001171.6:c.3982G>T MANE Select	NP_001162.5:p.Val1328Phe