Canonical Allele Identifier: CA394876234
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1042380
ClinVar RCV Id: RCV001346317
dbSNP Id: rs63750446

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155019C>G , CM000678.2:g.16155019C>G GRCh38
NC_000016.9:g.16248876C>G , CM000678.1:g.16248876C>G GRCh37
NC_000016.8:g.16156377C>G NCBI36
NG_007558.2:g.73453G>C
NG_007558.3:g.73599G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.758G>C
ENST00000622290.5:c.*67G>C ENSP00000483331.2:n.*67G>C
ENST00000205557.12:c.3895G>C MANE Select ENSP00000205557.7:p.Gly1299Arg
ENST00000640696.1:c.709G>C ENSP00000492197.1:p.Gly237Arg
ENST00000205557.11:c.3895G>C ENSP00000205557.7:p.Gly1299Arg
ENST00000456970.6:c.3520G>C ENSP00000405002.2:n.3520G>C
ENST00000576204.5:n.758G>C
ENST00000622290.4:c.*1104G>C ENSP00000483331.1:n.*1104G>C
NM_001171.5:c.3895G>C NP_001162.4:p.Gly1299Arg
XM_011522479.1:c.3862G>C XP_011520781.1:p.Gly1288Arg
XM_011522480.1:c.3553G>C XP_011520782.1:p.Gly1185Arg
XM_011522481.1:c.3553G>C XP_011520783.1:p.Gly1185Arg
XR_932836.1:n.4193G>C
XR_932837.1:n.3931G>C
XR_932838.1:n.3994G>C
XR_933134.1:n.539-4762C>G
NM_001351800.1:c.3553G>C NP_001338729.1:p.Gly1185Arg
NR_147784.1:n.3557G>C
XM_011522479.2:c.3862G>C XP_011520781.1:p.Gly1288Arg
XM_011522481.3:c.3553G>C XP_011520783.1:p.Gly1185Arg
XM_017023212.1:c.3727G>C XP_016878701.1:p.Gly1243Arg
XM_024450261.1:c.3931G>C XP_024306029.1:p.Gly1311Arg
XR_932836.2:n.4139G>C
XR_932837.3:n.3876G>C
XR_932838.3:n.3939G>C
NM_001171.6:c.3895G>C MANE Select NP_001162.5:p.Gly1299Arg