Canonical Allele Identifier: CA394883735

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1996049
• ClinVar RCV Id: RCV002819457
• dbSNP Id: rs1596579802
• gnomAD v3: 16-16150614-A-G
• gnomAD v4: 16-16150614-A-G
• MyVariant Identifiers: chr16:g.16244471A>G (hg19) ; chr16:g.16150614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150614A>G , CM000678.2:g.16150614A>G	GRCh38
NC_000016.9:g.16244471A>G , CM000678.1:g.16244471A>G	GRCh37
NC_000016.8:g.16151972A>G	NCBI36
NG_007558.2:g.77858T>C
NG_007558.3:g.78004T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*539T>C	ENSP00000483331.2:n.*539T>C
ENST00000205557.12:c.4367T>C MANE Select	ENSP00000205557.7:p.Ile1456Thr
ENST00000640696.1:c.1181T>C	ENSP00000492197.1:p.Ile394Thr
ENST00000205557.11:c.4367T>C	ENSP00000205557.7:p.Ile1456Thr
ENST00000456970.6:c.3992T>C	ENSP00000405002.2:n.3992T>C
ENST00000576204.5:n.1230T>C
ENST00000622290.4:c.*1576T>C	ENSP00000483331.1:n.*1576T>C
NM_001171.5:c.4367T>C	NP_001162.4:p.Ile1456Thr
XM_011522479.1:c.4334T>C	XP_011520781.1:p.Ile1445Thr
XM_011522480.1:c.4025T>C	XP_011520782.1:p.Ile1342Thr
XM_011522481.1:c.4025T>C	XP_011520783.1:p.Ile1342Thr
XR_933134.1:n.538+6324A>G
NM_001351800.1:c.4025T>C	NP_001338729.1:p.Ile1342Thr
NR_147784.1:n.4029T>C
XM_011522479.2:c.4334T>C	XP_011520781.1:p.Ile1445Thr
XM_011522481.3:c.4025T>C	XP_011520783.1:p.Ile1342Thr
XM_017023212.1:c.4199T>C	XP_016878701.1:p.Ile1400Thr
XM_024450261.1:c.4403T>C	XP_024306029.1:p.Ile1468Thr
NM_001171.6:c.4367T>C MANE Select	NP_001162.5:p.Ile1456Thr