Canonical Allele Identifier: CA278625576
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433334
ClinVar RCV Id: RCV000499236
dbSNP Id: rs63750494

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155012G>A , CM000678.2:g.16155012G>A GRCh38
NC_000016.9:g.16248869G>A , CM000678.1:g.16248869G>A GRCh37
NC_000016.8:g.16156370G>A NCBI36
NG_007558.2:g.73460C>T
NG_007558.3:g.73606C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000205557.12:c.3902C>T MANE Select ENSP00000205557.7:p.Thr1301Ile
ENST00000640696.1:n.716C>T ENSP00000492197.1:p.Thr239Ile
ENST00000205557.11:c.3902C>T ENSP00000205557.7:p.Thr1301Ile
ENST00000456970.6:n.3527C>T ENSP00000405002.2:p.=
ENST00000576204.5:n.765C>T
ENST00000622290.4:c.*1111C>T ENSP00000483331.1:p.=
NM_001171.5:c.3902C>T NP_001162.4:p.Thr1301Ile
XM_011522479.1:c.3869C>T XP_011520781.1:p.Thr1290Ile
XM_011522480.1:c.3560C>T XP_011520782.1:p.Thr1187Ile
XM_011522481.1:c.3560C>T XP_011520783.1:p.Thr1187Ile
XR_932836.1:n.4200C>T
XR_932837.1:n.3938C>T
XR_932838.1:n.4001C>T
XR_933134.1:n.539-4769G>A
NM_001351800.1:c.3560C>T NP_001338729.1:p.Thr1187Ile
NR_147784.1:n.3564C>T
XM_011522479.2:c.3869C>T XP_011520781.1:p.Thr1290Ile
XM_011522481.3:c.3560C>T XP_011520783.1:p.Thr1187Ile
XM_017023212.1:c.3734C>T XP_016878701.1:p.Thr1245Ile
XM_024450261.1:c.3938C>T XP_024306029.1:p.Thr1313Ile
XR_932836.2:n.4146C>T
XR_932837.3:n.3883C>T
XR_932838.3:n.3946C>T
NM_001171.6:c.3902C>T MANE Select NP_001162.5:p.Thr1301Ile