Canonical Allele Identifier: CA394883531

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150182-G-A
• MyVariant Identifiers: chr16:g.16244039G>A (hg19) ; chr16:g.16150182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150182G>A , CM000678.2:g.16150182G>A	GRCh38
NC_000016.9:g.16244039G>A , CM000678.1:g.16244039G>A	GRCh37
NC_000016.8:g.16151540G>A	NCBI36
NG_007558.2:g.78290C>T
NG_007558.3:g.78436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*635C>T	ENSP00000483331.2:n.*635C>T
ENST00000205557.12:c.4463C>T MANE Select	ENSP00000205557.7:p.Ala1488Val
ENST00000640696.1:c.1277C>T	ENSP00000492197.1:p.Ala426Val
ENST00000205557.11:c.4463C>T	ENSP00000205557.7:p.Ala1488Val
ENST00000456970.6:c.4088C>T	ENSP00000405002.2:n.4088C>T
ENST00000576204.5:n.1326C>T
ENST00000622290.4:c.*1672C>T	ENSP00000483331.1:n.*1672C>T
NM_001171.5:c.4463C>T	NP_001162.4:p.Ala1488Val
XM_011522479.1:c.4430C>T	XP_011520781.1:p.Ala1477Val
XM_011522480.1:c.4121C>T	XP_011520782.1:p.Ala1374Val
XM_011522481.1:c.4121C>T	XP_011520783.1:p.Ala1374Val
XR_933134.1:n.538+5892G>A
NM_001351800.1:c.4121C>T	NP_001338729.1:p.Ala1374Val
NR_147784.1:n.4125C>T
XM_011522479.2:c.4430C>T	XP_011520781.1:p.Ala1477Val
XM_011522481.3:c.4121C>T	XP_011520783.1:p.Ala1374Val
XM_017023212.1:c.4295C>T	XP_016878701.1:p.Ala1432Val
XM_024450261.1:c.4499C>T	XP_024306029.1:p.Ala1500Val
NM_001171.6:c.4463C>T MANE Select	NP_001162.5:p.Ala1488Val