Canonical Allele Identifier: CA278674819

Gene: ABCC6

Linked Data

• dbSNP Id: rs952592431
• gnomAD v3: 16-16149717-A-G
• gnomAD v4: 16-16149717-A-G
• MyVariant Identifiers: chr16:g.16243574A>G (hg19) ; chr16:g.16149717A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149717A>G , CM000678.2:g.16149717A>G	GRCh38
NC_000016.9:g.16243574A>G , CM000678.1:g.16243574A>G	GRCh37
NC_000016.8:g.16151075A>G	NCBI36
NG_007558.2:g.78755T>C
NG_007558.3:g.78901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1100T>C	ENSP00000483331.2:n.*1100T>C
ENST00000205557.12:c.*416T>C MANE Select	ENSP00000205557.7:n.*416T>C
ENST00000640696.1:c.1742T>C	ENSP00000492197.1:n.1742T>C
ENST00000205557.11:c.*416T>C	ENSP00000205557.7:n.*416T>C
ENST00000576204.5:n.1791T>C
ENST00000622290.4:c.*2137T>C	ENSP00000483331.1:n.*2137T>C
NM_001171.5:c.*416T>C	NP_001162.4:n.*416T>C
XM_011522479.1:c.*416T>C	XP_011520781.1:n.*416T>C
XM_011522480.1:c.*416T>C	XP_011520782.1:n.*416T>C
XM_011522481.1:c.*416T>C	XP_011520783.1:n.*416T>C
XR_933134.1:n.538+5427A>G
NM_001351800.1:c.*416T>C	NP_001338729.1:n.*416T>C
NR_147784.1:n.4590T>C
XM_011522479.2:c.*416T>C	XP_011520781.1:n.*416T>C
XM_011522481.3:c.*416T>C	XP_011520783.1:n.*416T>C
XM_017023212.1:c.*416T>C	XP_016878701.1:n.*416T>C
XM_024450261.1:c.*416T>C	XP_024306029.1:n.*416T>C
NM_001171.6:c.*416T>C MANE Select	NP_001162.5:n.*416T>C