Canonical Allele Identifier: CA394883464

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150150-C-T
• MyVariant Identifiers: chr16:g.16244007C>T (hg19) ; chr16:g.16150150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150150C>T , CM000678.2:g.16150150C>T	GRCh38
NC_000016.9:g.16244007C>T , CM000678.1:g.16244007C>T	GRCh37
NC_000016.8:g.16151508C>T	NCBI36
NG_007558.2:g.78322G>A
NG_007558.3:g.78468G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*667G>A	ENSP00000483331.2:n.*667G>A
ENST00000205557.12:c.4495G>A MANE Select	ENSP00000205557.7:p.Glu1499Lys
ENST00000640696.1:c.1309G>A	ENSP00000492197.1:p.Glu437Lys
ENST00000205557.11:c.4495G>A	ENSP00000205557.7:p.Glu1499Lys
ENST00000456970.6:c.4120G>A	ENSP00000405002.2:n.4120G>A
ENST00000576204.5:n.1358G>A
ENST00000622290.4:c.*1704G>A	ENSP00000483331.1:n.*1704G>A
NM_001171.5:c.4495G>A	NP_001162.4:p.Glu1499Lys
XM_011522479.1:c.4462G>A	XP_011520781.1:p.Glu1488Lys
XM_011522480.1:c.4153G>A	XP_011520782.1:p.Glu1385Lys
XM_011522481.1:c.4153G>A	XP_011520783.1:p.Glu1385Lys
XR_933134.1:n.538+5860C>T
NM_001351800.1:c.4153G>A	NP_001338729.1:p.Glu1385Lys
NR_147784.1:n.4157G>A
XM_011522479.2:c.4462G>A	XP_011520781.1:p.Glu1488Lys
XM_011522481.3:c.4153G>A	XP_011520783.1:p.Glu1385Lys
XM_017023212.1:c.4327G>A	XP_016878701.1:p.Glu1443Lys
XM_024450261.1:c.4531G>A	XP_024306029.1:p.Glu1511Lys
NM_001171.6:c.4495G>A MANE Select	NP_001162.5:p.Glu1499Lys