Canonical Allele Identifier: CA394884578
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433509
ClinVar RCV Id: RCV000499041
dbSNP Id: rs1555510357

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169730A>G , CM000678.2:g.16169730A>G GRCh38
NC_000016.9:g.16263587A>G , CM000678.1:g.16263587A>G GRCh37
NC_000016.8:g.16171088A>G NCBI36
NG_007558.2:g.58742T>C
NG_007558.3:g.58888T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2911T>C ENSP00000483331.2:p.Trp971Arg
ENST00000205557.12:c.2911T>C MANE Select ENSP00000205557.7:p.Trp971Arg
ENST00000205557.11:c.2911T>C ENSP00000205557.7:p.Trp971Arg
ENST00000456970.6:c.2736T>C ENSP00000405002.2:n.2736T>C
ENST00000622290.4:c.*120T>C ENSP00000483331.1:n.*120T>C
NM_001171.5:c.2911T>C NP_001162.4:p.Trp971Arg
XM_011522479.1:c.2878T>C XP_011520781.1:p.Trp960Arg
XM_011522480.1:c.2569T>C XP_011520782.1:p.Trp857Arg
XM_011522481.1:c.2569T>C XP_011520783.1:p.Trp857Arg
XR_932836.1:n.3146T>C
XR_932837.1:n.3147T>C
XR_932838.1:n.3147T>C
NM_001351800.1:c.2569T>C NP_001338729.1:p.Trp857Arg
NR_147784.1:n.2773T>C
XM_011522479.2:c.2878T>C XP_011520781.1:p.Trp960Arg
XM_011522481.3:c.2569T>C XP_011520783.1:p.Trp857Arg
XM_017023212.1:c.2743T>C XP_016878701.1:p.Trp915Arg
XM_017023214.1:c.2911T>C XP_016878703.1:p.Trp971Arg
XM_024450261.1:c.2947T>C XP_024306029.1:p.Trp983Arg
XR_932836.2:n.3092T>C
XR_932837.3:n.3092T>C
XR_932838.3:n.3092T>C
NM_001171.6:c.2911T>C MANE Select NP_001162.5:p.Trp971Arg