Canonical Allele Identifier: CA278625550
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433337
ClinVar RCV Id: RCV000499015
dbSNP Id: rs63751318
gnomAD v4: 16-16154995-A-G
MyVariant Identifiers: chr16:g.16248852A>G (hg19) chr16:g.16154995A>G (hg38)
PubMed: PMID:15894595
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154995A>G , CM000678.2:g.16154995A>G GRCh38
NC_000016.9:g.16248852A>G , CM000678.1:g.16248852A>G GRCh37
NC_000016.8:g.16156353A>G NCBI36
NG_007558.2:g.73477T>C
NG_007558.3:g.73623T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.782T>C
ENST00000622290.5:c.*91T>C ENSP00000483331.2:n.*91T>C
ENST00000205557.12:c.3919T>C MANE Select ENSP00000205557.7:p.Ser1307Pro
ENST00000640696.1:c.733T>C ENSP00000492197.1:p.Ser245Pro
ENST00000205557.11:c.3919T>C ENSP00000205557.7:p.Ser1307Pro
ENST00000456970.6:c.3544T>C ENSP00000405002.2:n.3544T>C
ENST00000576204.5:n.782T>C
ENST00000622290.4:c.*1128T>C ENSP00000483331.1:n.*1128T>C
NM_001171.5:c.3919T>C NP_001162.4:p.Ser1307Pro
XM_011522479.1:c.3886T>C XP_011520781.1:p.Ser1296Pro
XM_011522480.1:c.3577T>C XP_011520782.1:p.Ser1193Pro
XM_011522481.1:c.3577T>C XP_011520783.1:p.Ser1193Pro
XR_932836.1:n.4217T>C
XR_932837.1:n.3955T>C
XR_932838.1:n.4018T>C
XR_933134.1:n.539-4786A>G
NM_001351800.1:c.3577T>C NP_001338729.1:p.Ser1193Pro
NR_147784.1:n.3581T>C
XM_011522479.2:c.3886T>C XP_011520781.1:p.Ser1296Pro
XM_011522481.3:c.3577T>C XP_011520783.1:p.Ser1193Pro
XM_017023212.1:c.3751T>C XP_016878701.1:p.Ser1251Pro
XM_024450261.1:c.3955T>C XP_024306029.1:p.Ser1319Pro
XR_932836.2:n.4163T>C
XR_932837.3:n.3900T>C
XR_932838.3:n.3963T>C
NM_001171.6:c.3919T>C MANE Select NP_001162.5:p.Ser1307Pro
Search 100 bp 5'
Search 100 bp 3'