Canonical Allele Identifier: CA278664165
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433227
ClinVar RCV Id: RCV000499229
dbSNP Id: rs72653765
MyVariant Identifiers: chr16:g.16291972A>G (hg19) chr16:g.16198115A>G (hg38)
PubMed: PMID:16835894
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198115A>G , CM000678.2:g.16198115A>G GRCh38
NC_000016.9:g.16291972A>G , CM000678.1:g.16291972A>G GRCh37
NC_000016.8:g.16199473A>G NCBI36
NG_007558.2:g.30357T>C
NG_007558.3:g.30503T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000574094.6:c.1244T>C ENSP00000507301.1:p.Val415Ala
ENST00000622290.5:c.1244T>C ENSP00000483331.2:p.Val415Ala
ENST00000205557.12:c.1244T>C MANE Select ENSP00000205557.7:p.Val415Ala
ENST00000205557.11:c.1244T>C ENSP00000205557.7:p.Val415Ala
ENST00000456970.6:c.1244T>C ENSP00000405002.2:p.Val415Ala
ENST00000574094.5:n.1340T>C
ENST00000622290.4:c.1244T>C ENSP00000483331.1:p.Val415Ala
NM_001171.5:c.1244T>C NP_001162.4:p.Val415Ala
XM_011522479.1:c.1244T>C XP_011520781.1:p.Val415Ala
XM_011522480.1:c.902T>C XP_011520782.1:p.Val301Ala
XM_011522481.1:c.902T>C XP_011520783.1:p.Val301Ala
XM_011522482.1:c.1244T>C XP_011520784.1:p.Val415Ala
XR_932836.1:n.1479T>C
XR_932837.1:n.1480T>C
XR_932838.1:n.1480T>C
NM_001351800.1:c.902T>C NP_001338729.1:p.Val301Ala
NR_147784.1:n.1281T>C
XM_011522479.2:c.1244T>C XP_011520781.1:p.Val415Ala
XM_011522481.3:c.902T>C XP_011520783.1:p.Val301Ala
XM_011522482.3:c.1244T>C XP_011520784.1:p.Val415Ala
XM_017023212.1:c.1244T>C XP_016878701.1:p.Val415Ala
XM_017023214.1:c.1244T>C XP_016878703.1:p.Val415Ala
XM_024450261.1:c.1280T>C XP_024306029.1:p.Val427Ala
XR_932836.2:n.1425T>C
XR_932837.3:n.1425T>C
XR_932838.3:n.1425T>C
NM_001171.6:c.1244T>C MANE Select NP_001162.5:p.Val415Ala
Search 100 bp 5'
Search 100 bp 3'