Canonical Allele Identifier: CA394884432

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248519G>C (hg19) ; chr16:g.16154662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154662G>C , CM000678.2:g.16154662G>C	GRCh38
NC_000016.9:g.16248519G>C , CM000678.1:g.16248519G>C	GRCh37
NC_000016.8:g.16156020G>C	NCBI36
NG_007558.2:g.73810C>G
NG_007558.3:g.73956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*346C>G	ENSP00000483331.2:n.*346C>G
ENST00000205557.12:c.4174C>G MANE Select	ENSP00000205557.7:p.Gln1392Glu
ENST00000640696.1:c.988C>G	ENSP00000492197.1:p.Gln330Glu
ENST00000205557.11:c.4174C>G	ENSP00000205557.7:p.Gln1392Glu
ENST00000456970.6:c.3799C>G	ENSP00000405002.2:n.3799C>G
ENST00000576204.5:n.1037C>G
ENST00000622290.4:c.*1383C>G	ENSP00000483331.1:n.*1383C>G
NM_001171.5:c.4174C>G	NP_001162.4:p.Gln1392Glu
XM_011522479.1:c.4141C>G	XP_011520781.1:p.Gln1381Glu
XM_011522480.1:c.3832C>G	XP_011520782.1:p.Gln1278Glu
XM_011522481.1:c.3832C>G	XP_011520783.1:p.Gln1278Glu
XR_933134.1:n.539-5119G>C
NM_001351800.1:c.3832C>G	NP_001338729.1:p.Gln1278Glu
NR_147784.1:n.3836C>G
XM_011522479.2:c.4141C>G	XP_011520781.1:p.Gln1381Glu
XM_011522481.3:c.3832C>G	XP_011520783.1:p.Gln1278Glu
XM_017023212.1:c.4006C>G	XP_016878701.1:p.Gln1336Glu
XM_024450261.1:c.4210C>G	XP_024306029.1:p.Gln1404Glu
NM_001171.6:c.4174C>G MANE Select	NP_001162.5:p.Gln1392Glu