Canonical Allele Identifier: CA278647831
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433265
ClinVar RCV Id: RCV000499343
dbSNP Id: rs66616070

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16182414G>A , CM000678.2:g.16182414G>A GRCh38
NC_000016.9:g.16276271G>A , CM000678.1:g.16276271G>A GRCh37
NC_000016.8:g.16183772G>A NCBI36
NG_007558.2:g.46058C>T
NG_007558.3:g.46204C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2245C>T ENSP00000483331.2:p.Gln749Ter
ENST00000205557.12:c.2245C>T MANE Select ENSP00000205557.7:p.Gln749Ter
ENST00000205557.11:c.2245C>T ENSP00000205557.7:p.Gln749Ter
ENST00000456970.6:c.2245C>T ENSP00000405002.2:p.Gln749Ter
ENST00000574094.5:n.2040-489C>T
ENST00000622290.4:c.2245C>T ENSP00000483331.1:p.Gln749Ter
NM_001171.5:c.2245C>T NP_001162.4:p.Gln749Ter
XM_011522479.1:c.2245C>T XP_011520781.1:p.Gln749Ter
XM_011522480.1:c.1903C>T XP_011520782.1:p.Gln635Ter
XM_011522481.1:c.1903C>T XP_011520783.1:p.Gln635Ter
XM_011522482.1:c.2245C>T XP_011520784.1:p.Gln749Ter
XR_932836.1:n.2480C>T
XR_932837.1:n.2481C>T
XR_932838.1:n.2481C>T
NM_001351800.1:c.1903C>T NP_001338729.1:p.Gln635Ter
NR_147784.1:n.2282C>T
XM_011522479.2:c.2245C>T XP_011520781.1:p.Gln749Ter
XM_011522481.3:c.1903C>T XP_011520783.1:p.Gln635Ter
XM_011522482.3:c.2245C>T XP_011520784.1:p.Gln749Ter
XM_017023212.1:c.2245C>T XP_016878701.1:p.Gln749Ter
XM_017023214.1:c.2245C>T XP_016878703.1:p.Gln749Ter
XM_024450261.1:c.2281C>T XP_024306029.1:p.Gln761Ter
XR_932836.2:n.2426C>T
XR_932837.3:n.2426C>T
XR_932838.3:n.2426C>T
NM_001171.6:c.2245C>T MANE Select NP_001162.5:p.Gln749Ter