Canonical Allele Identifier: CA7925255
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433354
ClinVar RCV Id: RCV000499150
dbSNP Id: rs63750700

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150772G>T , CM000678.2:g.16150772G>T GRCh38
NC_000016.9:g.16244629G>T , CM000678.1:g.16244629G>T GRCh37
NC_000016.8:g.16152130G>T NCBI36
NG_007558.2:g.77700C>A
NG_007558.3:g.77846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381C>A ENSP00000483331.2:n.*381C>A
ENST00000205557.12:c.4209C>A MANE Select ENSP00000205557.7:p.Ser1403Arg
ENST00000640696.1:c.1023C>A ENSP00000492197.1:p.Ser341Arg
ENST00000205557.11:c.4209C>A ENSP00000205557.7:p.Ser1403Arg
ENST00000456970.6:c.3834C>A ENSP00000405002.2:n.3834C>A
ENST00000576204.5:n.1072C>A
ENST00000622290.4:c.*1418C>A ENSP00000483331.1:n.*1418C>A
NM_001171.5:c.4209C>A NP_001162.4:p.Ser1403Arg
XM_011522479.1:c.4176C>A XP_011520781.1:p.Ser1392Arg
XM_011522480.1:c.3867C>A XP_011520782.1:p.Ser1289Arg
XM_011522481.1:c.3867C>A XP_011520783.1:p.Ser1289Arg
XR_933134.1:n.538+6482G>T
NM_001351800.1:c.3867C>A NP_001338729.1:p.Ser1289Arg
NR_147784.1:n.3871C>A
XM_011522479.2:c.4176C>A XP_011520781.1:p.Ser1392Arg
XM_011522481.3:c.3867C>A XP_011520783.1:p.Ser1289Arg
XM_017023212.1:c.4041C>A XP_016878701.1:p.Ser1347Arg
XM_024450261.1:c.4245C>A XP_024306029.1:p.Ser1415Arg
NM_001171.6:c.4209C>A MANE Select NP_001162.5:p.Ser1403Arg