Canonical Allele Identifier: CA7925918
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 381638
dbSNP Id: rs72653794

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16177622C>T , CM000678.2:g.16177622C>T GRCh38
NC_000016.9:g.16271479C>T , CM000678.1:g.16271479C>T GRCh37
NC_000016.8:g.16178980C>T NCBI36
NG_007558.2:g.50850G>A
NG_007558.3:g.50996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2420G>A ENSP00000483331.2:p.Arg807Gln
ENST00000205557.12:c.2420G>A MANE Select ENSP00000205557.7:p.Arg807Gln
ENST00000205557.11:c.2420G>A ENSP00000205557.7:p.Arg807Gln
ENST00000456970.6:c.2415+1176G>A ENSP00000405002.2:n.2415+1176G>A
ENST00000622290.4:c.2415+1176G>A ENSP00000483331.1:n.2415+1176G>A
NM_001171.5:c.2420G>A NP_001162.4:p.Arg807Gln
XM_011522479.1:c.2387G>A XP_011520781.1:p.Arg796Gln
XM_011522480.1:c.2078G>A XP_011520782.1:p.Arg693Gln
XM_011522481.1:c.2078G>A XP_011520783.1:p.Arg693Gln
XM_011522482.1:c.2420G>A XP_011520784.1:p.Arg807Gln
XR_932836.1:n.2655G>A
XR_932837.1:n.2656G>A
XR_932838.1:n.2656G>A
NM_001351800.1:c.2078G>A NP_001338729.1:p.Arg693Gln
NR_147784.1:n.2452+1176G>A
XM_011522479.2:c.2387G>A XP_011520781.1:p.Arg796Gln
XM_011522481.3:c.2078G>A XP_011520783.1:p.Arg693Gln
XM_011522482.3:c.2420G>A XP_011520784.1:p.Arg807Gln
XM_017023212.1:c.2252G>A XP_016878701.1:p.Arg751Gln
XM_017023214.1:c.2420G>A XP_016878703.1:p.Arg807Gln
XM_024450261.1:c.2456G>A XP_024306029.1:p.Arg819Gln
XR_932836.2:n.2601G>A
XR_932837.3:n.2601G>A
XR_932838.3:n.2601G>A
NM_001171.6:c.2420G>A MANE Select NP_001162.5:p.Arg807Gln