Canonical Allele Identifier: CA278676858
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433347
ClinVar RCV Id: RCV000499117
dbSNP Id: rs63751111

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154873C>G , CM000678.2:g.16154873C>G GRCh38
NC_000016.9:g.16248730C>G , CM000678.1:g.16248730C>G GRCh37
NC_000016.8:g.16156231C>G NCBI36
NG_007558.2:g.73599G>C
NG_007558.3:g.73745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.904G>C
ENST00000622290.5:c.*213G>C ENSP00000483331.2:n.*213G>C
ENST00000205557.12:c.4041G>C MANE Select ENSP00000205557.7:p.Gln1347His
ENST00000640696.1:c.855G>C ENSP00000492197.1:p.Gln285His
ENST00000205557.11:c.4041G>C ENSP00000205557.7:p.Gln1347His
ENST00000456970.6:c.3666G>C ENSP00000405002.2:n.3666G>C
ENST00000576204.5:n.904G>C
ENST00000622290.4:c.*1250G>C ENSP00000483331.1:n.*1250G>C
NM_001171.5:c.4041G>C NP_001162.4:p.Gln1347His
XM_011522479.1:c.4008G>C XP_011520781.1:p.Gln1336His
XM_011522480.1:c.3699G>C XP_011520782.1:p.Gln1233His
XM_011522481.1:c.3699G>C XP_011520783.1:p.Gln1233His
XR_933134.1:n.539-4908C>G
NM_001351800.1:c.3699G>C NP_001338729.1:p.Gln1233His
NR_147784.1:n.3703G>C
XM_011522479.2:c.4008G>C XP_011520781.1:p.Gln1336His
XM_011522481.3:c.3699G>C XP_011520783.1:p.Gln1233His
XM_017023212.1:c.3873G>C XP_016878701.1:p.Gln1291His
XM_024450261.1:c.4077G>C XP_024306029.1:p.Gln1359His
NM_001171.6:c.4041G>C MANE Select NP_001162.5:p.Gln1347His