Canonical Allele Identifier: CA394883552

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150192-G-T
• MyVariant Identifiers: chr16:g.16244049G>T (hg19) ; chr16:g.16150192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150192G>T , CM000678.2:g.16150192G>T	GRCh38
NC_000016.9:g.16244049G>T , CM000678.1:g.16244049G>T	GRCh37
NC_000016.8:g.16151550G>T	NCBI36
NG_007558.2:g.78280C>A
NG_007558.3:g.78426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*625C>A	ENSP00000483331.2:n.*625C>A
ENST00000205557.12:c.4453C>A MANE Select	ENSP00000205557.7:p.Gln1485Lys
ENST00000640696.1:c.1267C>A	ENSP00000492197.1:p.Gln423Lys
ENST00000205557.11:c.4453C>A	ENSP00000205557.7:p.Gln1485Lys
ENST00000456970.6:c.4078C>A	ENSP00000405002.2:n.4078C>A
ENST00000576204.5:n.1316C>A
ENST00000622290.4:c.*1662C>A	ENSP00000483331.1:n.*1662C>A
NM_001171.5:c.4453C>A	NP_001162.4:p.Gln1485Lys
XM_011522479.1:c.4420C>A	XP_011520781.1:p.Gln1474Lys
XM_011522480.1:c.4111C>A	XP_011520782.1:p.Gln1371Lys
XM_011522481.1:c.4111C>A	XP_011520783.1:p.Gln1371Lys
XR_933134.1:n.538+5902G>T
NM_001351800.1:c.4111C>A	NP_001338729.1:p.Gln1371Lys
NR_147784.1:n.4115C>A
XM_011522479.2:c.4420C>A	XP_011520781.1:p.Gln1474Lys
XM_011522481.3:c.4111C>A	XP_011520783.1:p.Gln1371Lys
XM_017023212.1:c.4285C>A	XP_016878701.1:p.Gln1429Lys
XM_024450261.1:c.4489C>A	XP_024306029.1:p.Gln1497Lys
NM_001171.6:c.4453C>A MANE Select	NP_001162.5:p.Gln1485Lys