Canonical Allele Identifier: CA7925347
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 265021
dbSNP Id: rs63750622

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154898C>T , CM000678.2:g.16154898C>T GRCh38
NC_000016.9:g.16248755C>T , CM000678.1:g.16248755C>T GRCh37
NC_000016.8:g.16156256C>T NCBI36
NG_007558.2:g.73574G>A
NG_007558.3:g.73720G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.879G>A
ENST00000622290.5:c.*188G>A ENSP00000483331.2:n.*188G>A
ENST00000205557.12:c.4016G>A MANE Select ENSP00000205557.7:p.Arg1339His
ENST00000640696.1:c.830G>A ENSP00000492197.1:p.Arg277His
ENST00000205557.11:c.4016G>A ENSP00000205557.7:p.Arg1339His
ENST00000456970.6:c.3641G>A ENSP00000405002.2:n.3641G>A
ENST00000576204.5:n.879G>A
ENST00000622290.4:c.*1225G>A ENSP00000483331.1:n.*1225G>A
NM_001171.5:c.4016G>A NP_001162.4:p.Arg1339His
XM_011522479.1:c.3983G>A XP_011520781.1:p.Arg1328His
XM_011522480.1:c.3674G>A XP_011520782.1:p.Arg1225His
XM_011522481.1:c.3674G>A XP_011520783.1:p.Arg1225His
XR_933134.1:n.539-4883C>T
NM_001351800.1:c.3674G>A NP_001338729.1:p.Arg1225His
NR_147784.1:n.3678G>A
XM_011522479.2:c.3983G>A XP_011520781.1:p.Arg1328His
XM_011522481.3:c.3674G>A XP_011520783.1:p.Arg1225His
XM_017023212.1:c.3848G>A XP_016878701.1:p.Arg1283His
XM_024450261.1:c.4052G>A XP_024306029.1:p.Arg1351His
NM_001171.6:c.4016G>A MANE Select NP_001162.5:p.Arg1339His