Canonical Allele Identifier: CA394884629

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046485052
• MyVariant Identifiers: chr16:g.16248582T>C (hg19) ; chr16:g.16154725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154725T>C , CM000678.2:g.16154725T>C	GRCh38
NC_000016.9:g.16248582T>C , CM000678.1:g.16248582T>C	GRCh37
NC_000016.8:g.16156083T>C	NCBI36
NG_007558.2:g.73747A>G
NG_007558.3:g.73893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*283A>G	ENSP00000483331.2:n.*283A>G
ENST00000205557.12:c.4111A>G MANE Select	ENSP00000205557.7:p.Ile1371Val
ENST00000640696.1:c.925A>G	ENSP00000492197.1:p.Ile309Val
ENST00000205557.11:c.4111A>G	ENSP00000205557.7:p.Ile1371Val
ENST00000456970.6:c.3736A>G	ENSP00000405002.2:n.3736A>G
ENST00000576204.5:n.974A>G
ENST00000622290.4:c.*1320A>G	ENSP00000483331.1:n.*1320A>G
NM_001171.5:c.4111A>G	NP_001162.4:p.Ile1371Val
XM_011522479.1:c.4078A>G	XP_011520781.1:p.Ile1360Val
XM_011522480.1:c.3769A>G	XP_011520782.1:p.Ile1257Val
XM_011522481.1:c.3769A>G	XP_011520783.1:p.Ile1257Val
XR_933134.1:n.539-5056T>C
NM_001351800.1:c.3769A>G	NP_001338729.1:p.Ile1257Val
NR_147784.1:n.3773A>G
XM_011522479.2:c.4078A>G	XP_011520781.1:p.Ile1360Val
XM_011522481.3:c.3769A>G	XP_011520783.1:p.Ile1257Val
XM_017023212.1:c.3943A>G	XP_016878701.1:p.Ile1315Val
XM_024450261.1:c.4147A>G	XP_024306029.1:p.Ile1383Val
NM_001171.6:c.4111A>G MANE Select	NP_001162.5:p.Ile1371Val