Canonical Allele Identifier: CA7925362

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1349413
• ClinVar RCV Id: RCV002046930 ; RCV002506878
• dbSNP Id: rs79536709
• ExAC: 16:16248792 C / T
• gnomAD v2: 16-16248792-C-T
• gnomAD v3: 16-16154935-C-T
• gnomAD v4: 16-16154935-C-T
• COSMIC: COSM2127435
• MyVariant Identifiers: chr16:g.16248792C>T (hg19) ; chr16:g.16154935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154935C>T , CM000678.2:g.16154935C>T	GRCh38
NC_000016.9:g.16248792C>T , CM000678.1:g.16248792C>T	GRCh37
NC_000016.8:g.16156293C>T	NCBI36
NG_007558.2:g.73537G>A
NG_007558.3:g.73683G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.842G>A
ENST00000622290.5:c.*151G>A	ENSP00000483331.2:n.*151G>A
ENST00000205557.12:c.3979G>A MANE Select	ENSP00000205557.7:p.Gly1327Arg
ENST00000640696.1:c.793G>A	ENSP00000492197.1:p.Gly265Arg
ENST00000205557.11:c.3979G>A	ENSP00000205557.7:p.Gly1327Arg
ENST00000456970.6:c.3604G>A	ENSP00000405002.2:n.3604G>A
ENST00000576204.5:n.842G>A
ENST00000622290.4:c.*1188G>A	ENSP00000483331.1:n.*1188G>A
NM_001171.5:c.3979G>A	NP_001162.4:p.Gly1327Arg
XM_011522479.1:c.3946G>A	XP_011520781.1:p.Gly1316Arg
XM_011522480.1:c.3637G>A	XP_011520782.1:p.Gly1213Arg
XM_011522481.1:c.3637G>A	XP_011520783.1:p.Gly1213Arg
XR_933134.1:n.539-4846C>T
NM_001351800.1:c.3637G>A	NP_001338729.1:p.Gly1213Arg
NR_147784.1:n.3641G>A
XM_011522479.2:c.3946G>A	XP_011520781.1:p.Gly1316Arg
XM_011522481.3:c.3637G>A	XP_011520783.1:p.Gly1213Arg
XM_017023212.1:c.3811G>A	XP_016878701.1:p.Gly1271Arg
XM_024450261.1:c.4015G>A	XP_024306029.1:p.Gly1339Arg
NM_001171.6:c.3979G>A MANE Select	NP_001162.5:p.Gly1327Arg