Canonical Allele Identifier: CA7925161
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433367
ClinVar RCV Id: RCV000499340
dbSNP Id: rs63750135

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150197G>A , CM000678.2:g.16150197G>A GRCh38
NC_000016.9:g.16244054G>A , CM000678.1:g.16244054G>A GRCh37
NC_000016.8:g.16151555G>A NCBI36
NG_007558.2:g.78275C>T
NG_007558.3:g.78421C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000205557.12:c.4448C>T MANE Select ENSP00000205557.7:p.Pro1483Leu
ENST00000640696.1:n.1262C>T ENSP00000492197.1:p.Pro421Leu
ENST00000205557.11:c.4448C>T ENSP00000205557.7:p.Pro1483Leu
ENST00000456970.6:n.4073C>T ENSP00000405002.2:p.=
ENST00000576204.5:n.1311C>T
ENST00000622290.4:c.*1657C>T ENSP00000483331.1:p.=
NM_001171.5:c.4448C>T NP_001162.4:p.Pro1483Leu
XM_011522479.1:c.4415C>T XP_011520781.1:p.Pro1472Leu
XM_011522480.1:c.4106C>T XP_011520782.1:p.Pro1369Leu
XM_011522481.1:c.4106C>T XP_011520783.1:p.Pro1369Leu
XR_933134.1:n.538+5907G>A
NM_001351800.1:c.4106C>T NP_001338729.1:p.Pro1369Leu
NR_147784.1:n.4110C>T
XM_011522479.2:c.4415C>T XP_011520781.1:p.Pro1472Leu
XM_011522481.3:c.4106C>T XP_011520783.1:p.Pro1369Leu
XM_017023212.1:c.4280C>T XP_016878701.1:p.Pro1427Leu
XM_024450261.1:c.4484C>T XP_024306029.1:p.Pro1495Leu
NM_001171.6:c.4448C>T MANE Select NP_001162.5:p.Pro1483Leu