Canonical Allele Identifier: CA278628748
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433324
ClinVar RCV Id: RCV000499148
dbSNP Id: rs72653746

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159508G>A , CM000678.2:g.16159508G>A GRCh38
NC_000016.9:g.16253365G>A , CM000678.1:g.16253365G>A GRCh37
NC_000016.8:g.16160866G>A NCBI36
NG_007558.2:g.68964C>T
NG_007558.3:g.69110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3709C>T ENSP00000483331.2:p.Gln1237Ter
ENST00000205557.12:c.3709C>T MANE Select ENSP00000205557.7:p.Gln1237Ter
ENST00000640696.1:c.523C>T ENSP00000492197.1:p.Gln175Ter
ENST00000205557.11:c.3709C>T ENSP00000205557.7:p.Gln1237Ter
ENST00000456970.6:c.3334C>T ENSP00000405002.2:n.3334C>T
ENST00000622290.4:c.*918C>T ENSP00000483331.1:n.*918C>T
NM_001171.5:c.3709C>T NP_001162.4:p.Gln1237Ter
XM_011522479.1:c.3676C>T XP_011520781.1:p.Gln1226Ter
XM_011522480.1:c.3367C>T XP_011520782.1:p.Gln1123Ter
XM_011522481.1:c.3367C>T XP_011520783.1:p.Gln1123Ter
XR_932836.1:n.3944C>T
XR_932837.1:n.3745C>T
XR_932838.1:n.3745C>T
XR_933134.1:n.539-273G>A
NM_001351800.1:c.3367C>T NP_001338729.1:p.Gln1123Ter
NR_147784.1:n.3371C>T
XM_011522479.2:c.3676C>T XP_011520781.1:p.Gln1226Ter
XM_011522481.3:c.3367C>T XP_011520783.1:p.Gln1123Ter
XM_017023212.1:c.3541C>T XP_016878701.1:p.Gln1181Ter
XM_024450261.1:c.3745C>T XP_024306029.1:p.Gln1249Ter
XR_932836.2:n.3890C>T
XR_932837.3:n.3690C>T
XR_932838.3:n.3690C>T
NM_001171.6:c.3709C>T MANE Select NP_001162.5:p.Gln1237Ter