Canonical Allele Identifier: CA394884498

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1497476
• ClinVar RCV Id: RCV001996100
• dbSNP Id: rs1338245684
• gnomAD v2: 16-16248540-C-T
• gnomAD v4: 16-16154683-C-T
• MyVariant Identifiers: chr16:g.16248540C>T (hg19) ; chr16:g.16154683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154683C>T , CM000678.2:g.16154683C>T	GRCh38
NC_000016.9:g.16248540C>T , CM000678.1:g.16248540C>T	GRCh37
NC_000016.8:g.16156041C>T	NCBI36
NG_007558.2:g.73789G>A
NG_007558.3:g.73935G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*325G>A	ENSP00000483331.2:n.*325G>A
ENST00000205557.12:c.4153G>A MANE Select	ENSP00000205557.7:p.Ala1385Thr
ENST00000640696.1:c.967G>A	ENSP00000492197.1:p.Ala323Thr
ENST00000205557.11:c.4153G>A	ENSP00000205557.7:p.Ala1385Thr
ENST00000456970.6:c.3778G>A	ENSP00000405002.2:n.3778G>A
ENST00000576204.5:n.1016G>A
ENST00000622290.4:c.*1362G>A	ENSP00000483331.1:n.*1362G>A
NM_001171.5:c.4153G>A	NP_001162.4:p.Ala1385Thr
XM_011522479.1:c.4120G>A	XP_011520781.1:p.Ala1374Thr
XM_011522480.1:c.3811G>A	XP_011520782.1:p.Ala1271Thr
XM_011522481.1:c.3811G>A	XP_011520783.1:p.Ala1271Thr
XR_933134.1:n.539-5098C>T
NM_001351800.1:c.3811G>A	NP_001338729.1:p.Ala1271Thr
NR_147784.1:n.3815G>A
XM_011522479.2:c.4120G>A	XP_011520781.1:p.Ala1374Thr
XM_011522481.3:c.3811G>A	XP_011520783.1:p.Ala1271Thr
XM_017023212.1:c.3985G>A	XP_016878701.1:p.Ala1329Thr
XM_024450261.1:c.4189G>A	XP_024306029.1:p.Ala1397Thr
NM_001171.6:c.4153G>A MANE Select	NP_001162.5:p.Ala1385Thr