Canonical Allele Identifier: CA394877390

Gene: ABCC6

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157668C>G , CM000678.2:g.16157668C>G	GRCh38
NC_000016.9:g.16251525C>G , CM000678.1:g.16251525C>G	GRCh37
NC_000016.8:g.16159026C>G	NCBI36
NG_007558.2:g.70804G>C
NG_007558.3:g.70950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3877G>C	ENSP00000483331.2:p.Glu1293Gln
ENST00000205557.12:c.3877G>C MANE Select	ENSP00000205557.7:p.Glu1293Gln
ENST00000640696.1:c.691G>C	ENSP00000492197.1:p.Glu231Gln
ENST00000205557.11:c.3877G>C	ENSP00000205557.7:p.Glu1293Gln
ENST00000456970.6:c.3502G>C	ENSP00000405002.2:n.3502G>C
ENST00000622290.4:c.*1086G>C	ENSP00000483331.1:n.*1086G>C
NM_001171.5:c.3877G>C	NP_001162.4:p.Glu1293Gln
XM_011522479.1:c.3844G>C	XP_011520781.1:p.Glu1282Gln
XM_011522480.1:c.3535G>C	XP_011520782.1:p.Glu1179Gln
XM_011522481.1:c.3535G>C	XP_011520783.1:p.Glu1179Gln
XR_932836.1:n.4112G>C
XR_932837.1:n.3913G>C
XR_932838.1:n.3913G>C
XR_933134.1:n.539-2113C>G
NM_001351800.1:c.3535G>C	NP_001338729.1:p.Glu1179Gln
NR_147784.1:n.3539G>C
XM_011522479.2:c.3844G>C	XP_011520781.1:p.Glu1282Gln
XM_011522481.3:c.3535G>C	XP_011520783.1:p.Glu1179Gln
XM_017023212.1:c.3709G>C	XP_016878701.1:p.Glu1237Gln
XM_024450261.1:c.3913G>C	XP_024306029.1:p.Glu1305Gln
XR_932836.2:n.4058G>C
XR_932837.3:n.3858G>C
XR_932838.3:n.3858G>C
NM_001171.6:c.3877G>C MANE Select	NP_001162.5:p.Glu1293Gln