Canonical Allele Identifier: CA2210140694

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2834571
• ClinVar RCV Id: RCV003694556
• dbSNP Id: rs1567465407
• gnomAD v4: 16-16154808-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154808G>T , CM000678.2:g.16154808G>T	GRCh38
NC_000016.9:g.16248665G>T , CM000678.1:g.16248665G>T	GRCh37
NC_000016.8:g.16156166G>T	NCBI36
NG_007558.2:g.73664C>A
NG_007558.3:g.73810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.905-14C>A
ENST00000622290.5:c.*214-14C>A	ENSP00000483331.2:n.*214-14C>A
ENST00000205557.12:c.4042-14C>A MANE Select	ENSP00000205557.7:n.4042-14C>A
ENST00000640696.1:c.856-14C>A	ENSP00000492197.1:n.856-14C>A
ENST00000205557.11:c.4042-14C>A	ENSP00000205557.7:n.4042-14C>A
ENST00000456970.6:c.3667-14C>A	ENSP00000405002.2:n.3667-14C>A
ENST00000576204.5:n.905-14C>A
ENST00000622290.4:c.*1251-14C>A	ENSP00000483331.1:n.*1251-14C>A
NM_001171.5:c.4042-14C>A	NP_001162.4:n.4042-14C>A
XM_011522479.1:c.4009-14C>A	XP_011520781.1:n.4009-14C>A
XM_011522480.1:c.3700-14C>A	XP_011520782.1:n.3700-14C>A
XM_011522481.1:c.3700-14C>A	XP_011520783.1:n.3700-14C>A
XR_933134.1:n.539-4973G>T
NM_001351800.1:c.3700-14C>A	NP_001338729.1:n.3700-14C>A
NR_147784.1:n.3704-14C>A
XM_011522479.2:c.4009-14C>A	XP_011520781.1:n.4009-14C>A
XM_011522481.3:c.3700-14C>A	XP_011520783.1:n.3700-14C>A
XM_017023212.1:c.3874-14C>A	XP_016878701.1:n.3874-14C>A
XM_024450261.1:c.4078-14C>A	XP_024306029.1:n.4078-14C>A
NM_001171.6:c.4042-14C>A MANE Select	NP_001162.5:n.4042-14C>A