Canonical Allele Identifier: CA278628734
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433326
ClinVar RCV Id: RCV000499172
dbSNP Id: rs72653747

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159500A>C , CM000678.2:g.16159500A>C GRCh38
NC_000016.9:g.16253357A>C , CM000678.1:g.16253357A>C GRCh37
NC_000016.8:g.16160858A>C NCBI36
NG_007558.2:g.68972T>G
NG_007558.3:g.69118T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3717T>G ENSP00000483331.2:p.Tyr1239Ter
ENST00000205557.12:c.3717T>G MANE Select ENSP00000205557.7:p.Tyr1239Ter
ENST00000640696.1:c.531T>G ENSP00000492197.1:p.Tyr177Ter
ENST00000205557.11:c.3717T>G ENSP00000205557.7:p.Tyr1239Ter
ENST00000456970.6:c.3342T>G ENSP00000405002.2:n.3342T>G
ENST00000622290.4:c.*926T>G ENSP00000483331.1:n.*926T>G
NM_001171.5:c.3717T>G NP_001162.4:p.Tyr1239Ter
XM_011522479.1:c.3684T>G XP_011520781.1:p.Tyr1228Ter
XM_011522480.1:c.3375T>G XP_011520782.1:p.Tyr1125Ter
XM_011522481.1:c.3375T>G XP_011520783.1:p.Tyr1125Ter
XR_932836.1:n.3952T>G
XR_932837.1:n.3753T>G
XR_932838.1:n.3753T>G
XR_933134.1:n.539-281A>C
NM_001351800.1:c.3375T>G NP_001338729.1:p.Tyr1125Ter
NR_147784.1:n.3379T>G
XM_011522479.2:c.3684T>G XP_011520781.1:p.Tyr1228Ter
XM_011522481.3:c.3375T>G XP_011520783.1:p.Tyr1125Ter
XM_017023212.1:c.3549T>G XP_016878701.1:p.Tyr1183Ter
XM_024450261.1:c.3753T>G XP_024306029.1:p.Tyr1251Ter
XR_932836.2:n.3898T>G
XR_932837.3:n.3698T>G
XR_932838.3:n.3698T>G
NM_001171.6:c.3717T>G MANE Select NP_001162.5:p.Tyr1239Ter