Canonical Allele Identifier: CA278627543
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433331
ClinVar RCV Id: RCV000499351
dbSNP Id: rs63750209

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16157727C>T , CM000678.2:g.16157727C>T GRCh38
NC_000016.9:g.16251584C>T , CM000678.1:g.16251584C>T GRCh37
NC_000016.8:g.16159085C>T NCBI36
NG_007558.2:g.70745G>A
NG_007558.3:g.70891G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.3818G>A ENSP00000483331.2:p.Arg1273Lys
ENST00000205557.12:c.3818G>A MANE Select ENSP00000205557.7:p.Arg1273Lys
ENST00000640696.1:c.632G>A ENSP00000492197.1:p.Arg211Lys
ENST00000205557.11:c.3818G>A ENSP00000205557.7:p.Arg1273Lys
ENST00000456970.6:c.3443G>A ENSP00000405002.2:n.3443G>A
ENST00000622290.4:c.*1027G>A ENSP00000483331.1:n.*1027G>A
NM_001171.5:c.3818G>A NP_001162.4:p.Arg1273Lys
XM_011522479.1:c.3785G>A XP_011520781.1:p.Arg1262Lys
XM_011522480.1:c.3476G>A XP_011520782.1:p.Arg1159Lys
XM_011522481.1:c.3476G>A XP_011520783.1:p.Arg1159Lys
XR_932836.1:n.4053G>A
XR_932837.1:n.3854G>A
XR_932838.1:n.3854G>A
XR_933134.1:n.539-2054C>T
NM_001351800.1:c.3476G>A NP_001338729.1:p.Arg1159Lys
NR_147784.1:n.3480G>A
XM_011522479.2:c.3785G>A XP_011520781.1:p.Arg1262Lys
XM_011522481.3:c.3476G>A XP_011520783.1:p.Arg1159Lys
XM_017023212.1:c.3650G>A XP_016878701.1:p.Arg1217Lys
XM_024450261.1:c.3854G>A XP_024306029.1:p.Arg1285Lys
XR_932836.2:n.3999G>A
XR_932837.3:n.3799G>A
XR_932838.3:n.3799G>A
NM_001171.6:c.3818G>A MANE Select NP_001162.5:p.Arg1273Lys