Canonical Allele Identifier: CA278675310
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433359
ClinVar RCV Id: RCV000499099
dbSNP Id: rs72664289
MyVariant Identifiers: chr16:g.16244533G>A (hg19) chr16:g.16150676G>A (hg38)
PubMed: PMID:16086317
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150676G>A , CM000678.2:g.16150676G>A GRCh38
NC_000016.9:g.16244533G>A , CM000678.1:g.16244533G>A GRCh37
NC_000016.8:g.16152034G>A NCBI36
NG_007558.2:g.77796C>T
NG_007558.3:g.77942C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*477C>T ENSP00000483331.2:n.*477C>T
ENST00000205557.12:c.4305C>T MANE Select ENSP00000205557.7:p.Gly1435=
ENST00000640696.1:c.1119C>T ENSP00000492197.1:p.Gly373=
ENST00000205557.11:c.4305C>T ENSP00000205557.7:p.Gly1435=
ENST00000456970.6:c.3930C>T ENSP00000405002.2:n.3930C>T
ENST00000576204.5:n.1168C>T
ENST00000622290.4:c.*1514C>T ENSP00000483331.1:n.*1514C>T
NM_001171.5:c.4305C>T NP_001162.4:p.Gly1435=
XM_011522479.1:c.4272C>T XP_011520781.1:p.Gly1424=
XM_011522480.1:c.3963C>T XP_011520782.1:p.Gly1321=
XM_011522481.1:c.3963C>T XP_011520783.1:p.Gly1321=
XR_933134.1:n.538+6386G>A
NM_001351800.1:c.3963C>T NP_001338729.1:p.Gly1321=
NR_147784.1:n.3967C>T
XM_011522479.2:c.4272C>T XP_011520781.1:p.Gly1424=
XM_011522481.3:c.3963C>T XP_011520783.1:p.Gly1321=
XM_017023212.1:c.4137C>T XP_016878701.1:p.Gly1379=
XM_024450261.1:c.4341C>T XP_024306029.1:p.Gly1447=
NM_001171.6:c.4305C>T MANE Select NP_001162.5:p.Gly1435=
Search 100 bp 5'
Search 100 bp 3'