Canonical Allele Identifier: CA394884864

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154796-T-G
• MyVariant Identifiers: chr16:g.16248653T>G (hg19) ; chr16:g.16154796T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154796T>G , CM000678.2:g.16154796T>G	GRCh38
NC_000016.9:g.16248653T>G , CM000678.1:g.16248653T>G	GRCh37
NC_000016.8:g.16156154T>G	NCBI36
NG_007558.2:g.73676A>C
NG_007558.3:g.73822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.905-2A>C
ENST00000622290.5:c.*214-2A>C	ENSP00000483331.2:n.*214-2A>C
ENST00000205557.12:c.4042-2A>C MANE Select	ENSP00000205557.7:n.4042-2A>C
ENST00000640696.1:c.856-2A>C	ENSP00000492197.1:n.856-2A>C
ENST00000205557.11:c.4042-2A>C	ENSP00000205557.7:n.4042-2A>C
ENST00000456970.6:c.3667-2A>C	ENSP00000405002.2:n.3667-2A>C
ENST00000576204.5:n.905-2A>C
ENST00000622290.4:c.*1251-2A>C	ENSP00000483331.1:n.*1251-2A>C
NM_001171.5:c.4042-2A>C	NP_001162.4:n.4042-2A>C
XM_011522479.1:c.4009-2A>C	XP_011520781.1:n.4009-2A>C
XM_011522480.1:c.3700-2A>C	XP_011520782.1:n.3700-2A>C
XM_011522481.1:c.3700-2A>C	XP_011520783.1:n.3700-2A>C
XR_933134.1:n.539-4985T>G
NM_001351800.1:c.3700-2A>C	NP_001338729.1:n.3700-2A>C
NR_147784.1:n.3704-2A>C
XM_011522479.2:c.4009-2A>C	XP_011520781.1:n.4009-2A>C
XM_011522481.3:c.3700-2A>C	XP_011520783.1:n.3700-2A>C
XM_017023212.1:c.3874-2A>C	XP_016878701.1:n.3874-2A>C
XM_024450261.1:c.4078-2A>C	XP_024306029.1:n.4078-2A>C
NM_001171.6:c.4042-2A>C MANE Select	NP_001162.5:n.4042-2A>C