Canonical Allele Identifier: CA7925475
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433327
ClinVar RCV Id: RCV000499284
dbSNP Id: rs281865557

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159482C>A , CM000678.2:g.16159482C>A GRCh38
NC_000016.9:g.16253339C>A , CM000678.1:g.16253339C>A GRCh37
NC_000016.8:g.16160840C>A NCBI36
NG_007558.2:g.68990G>T
NG_007558.3:g.69136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3735G>T ENSP00000483331.2:p.Glu1245Asp
ENST00000205557.12:c.3735G>T MANE Select ENSP00000205557.7:p.Glu1245Asp
ENST00000640696.1:c.549G>T ENSP00000492197.1:p.Glu183Asp
ENST00000205557.11:c.3735G>T ENSP00000205557.7:p.Glu1245Asp
ENST00000456970.6:c.3360G>T ENSP00000405002.2:n.3360G>T
ENST00000622290.4:c.*944G>T ENSP00000483331.1:n.*944G>T
NM_001171.5:c.3735G>T NP_001162.4:p.Glu1245Asp
XM_011522479.1:c.3702G>T XP_011520781.1:p.Glu1234Asp
XM_011522480.1:c.3393G>T XP_011520782.1:p.Glu1131Asp
XM_011522481.1:c.3393G>T XP_011520783.1:p.Glu1131Asp
XR_932836.1:n.3970G>T
XR_932837.1:n.3771G>T
XR_932838.1:n.3771G>T
XR_933134.1:n.539-299C>A
NM_001351800.1:c.3393G>T NP_001338729.1:p.Glu1131Asp
NR_147784.1:n.3397G>T
XM_011522479.2:c.3702G>T XP_011520781.1:p.Glu1234Asp
XM_011522481.3:c.3393G>T XP_011520783.1:p.Glu1131Asp
XM_017023212.1:c.3567G>T XP_016878701.1:p.Glu1189Asp
XM_024450261.1:c.3771G>T XP_024306029.1:p.Glu1257Asp
XR_932836.2:n.3916G>T
XR_932837.3:n.3716G>T
XR_932838.3:n.3716G>T
NM_001171.6:c.3735G>T MANE Select NP_001162.5:p.Glu1245Asp