Canonical Allele Identifier: CA232835
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 143119
dbSNP Id: rs63750428

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154767G>A , CM000678.2:g.16154767G>A GRCh38
NC_000016.9:g.16248624G>A , CM000678.1:g.16248624G>A GRCh37
NC_000016.8:g.16156125G>A NCBI36
NG_007558.2:g.73705C>T
NG_007558.3:g.73851C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.932C>T
ENST00000622290.5:c.*241C>T ENSP00000483331.2:n.*241C>T
ENST00000205557.12:c.4069C>T MANE Select ENSP00000205557.7:p.Arg1357Trp
ENST00000640696.1:c.883C>T ENSP00000492197.1:p.Arg295Trp
ENST00000205557.11:c.4069C>T ENSP00000205557.7:p.Arg1357Trp
ENST00000456970.6:c.3694C>T ENSP00000405002.2:n.3694C>T
ENST00000576204.5:n.932C>T
ENST00000622290.4:c.*1278C>T ENSP00000483331.1:n.*1278C>T
NM_001171.5:c.4069C>T NP_001162.4:p.Arg1357Trp
XM_011522479.1:c.4036C>T XP_011520781.1:p.Arg1346Trp
XM_011522480.1:c.3727C>T XP_011520782.1:p.Arg1243Trp
XM_011522481.1:c.3727C>T XP_011520783.1:p.Arg1243Trp
XR_933134.1:n.539-5014G>A
NM_001351800.1:c.3727C>T NP_001338729.1:p.Arg1243Trp
NR_147784.1:n.3731C>T
XM_011522479.2:c.4036C>T XP_011520781.1:p.Arg1346Trp
XM_011522481.3:c.3727C>T XP_011520783.1:p.Arg1243Trp
XM_017023212.1:c.3901C>T XP_016878701.1:p.Arg1301Trp
XM_024450261.1:c.4105C>T XP_024306029.1:p.Arg1369Trp
NM_001171.6:c.4069C>T MANE Select NP_001162.5:p.Arg1357Trp