Canonical Allele Identifier: CA278625416
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1630495
ClinVar RCV Id: RCV002121231
dbSNP Id: rs60320257

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154918G>A , CM000678.2:g.16154918G>A GRCh38
NC_000016.9:g.16248775G>A , CM000678.1:g.16248775G>A GRCh37
NC_000016.8:g.16156276G>A NCBI36
NG_007558.2:g.73554C>T
NG_007558.3:g.73700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.859C>T
ENST00000622290.5:c.*168C>T ENSP00000483331.2:n.*168C>T
ENST00000205557.12:c.3996C>T MANE Select ENSP00000205557.7:p.His1332=
ENST00000640696.1:c.810C>T ENSP00000492197.1:p.His270=
ENST00000205557.11:c.3996C>T ENSP00000205557.7:p.His1332=
ENST00000456970.6:c.3621C>T ENSP00000405002.2:n.3621C>T
ENST00000576204.5:n.859C>T
ENST00000622290.4:c.*1205C>T ENSP00000483331.1:n.*1205C>T
NM_001171.5:c.3996C>T NP_001162.4:p.His1332=
XM_011522479.1:c.3963C>T XP_011520781.1:p.His1321=
XM_011522480.1:c.3654C>T XP_011520782.1:p.His1218=
XM_011522481.1:c.3654C>T XP_011520783.1:p.His1218=
XR_933134.1:n.539-4863G>A
NM_001351800.1:c.3654C>T NP_001338729.1:p.His1218=
NR_147784.1:n.3658C>T
XM_011522479.2:c.3963C>T XP_011520781.1:p.His1321=
XM_011522481.3:c.3654C>T XP_011520783.1:p.His1218=
XM_017023212.1:c.3828C>T XP_016878701.1:p.His1276=
XM_024450261.1:c.4032C>T XP_024306029.1:p.His1344=
NM_001171.6:c.3996C>T MANE Select NP_001162.5:p.His1332=