Canonical Allele Identifier: CA7925353
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 425098
ClinVar RCV Id: RCV000487735
dbSNP Id: rs139128550

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154912C>G , CM000678.2:g.16154912C>G GRCh38
NC_000016.9:g.16248769C>G , CM000678.1:g.16248769C>G GRCh37
NC_000016.8:g.16156270C>G NCBI36
NG_007558.2:g.73560G>C
NG_007558.3:g.73706G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.865G>C
ENST00000622290.5:c.*174G>C ENSP00000483331.2:n.*174G>C
ENST00000205557.12:c.4002G>C MANE Select ENSP00000205557.7:p.Gly1334=
ENST00000640696.1:c.816G>C ENSP00000492197.1:p.Gly272=
ENST00000205557.11:c.4002G>C ENSP00000205557.7:p.Gly1334=
ENST00000456970.6:c.3627G>C ENSP00000405002.2:n.3627G>C
ENST00000576204.5:n.865G>C
ENST00000622290.4:c.*1211G>C ENSP00000483331.1:n.*1211G>C
NM_001171.5:c.4002G>C NP_001162.4:p.Gly1334=
XM_011522479.1:c.3969G>C XP_011520781.1:p.Gly1323=
XM_011522480.1:c.3660G>C XP_011520782.1:p.Gly1220=
XM_011522481.1:c.3660G>C XP_011520783.1:p.Gly1220=
XR_933134.1:n.539-4869C>G
NM_001351800.1:c.3660G>C NP_001338729.1:p.Gly1220=
NR_147784.1:n.3664G>C
XM_011522479.2:c.3969G>C XP_011520781.1:p.Gly1323=
XM_011522481.3:c.3660G>C XP_011520783.1:p.Gly1220=
XM_017023212.1:c.3834G>C XP_016878701.1:p.Gly1278=
XM_024450261.1:c.4038G>C XP_024306029.1:p.Gly1346=
NM_001171.6:c.4002G>C MANE Select NP_001162.5:p.Gly1334=