Canonical Allele Identifier: CA7925246

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2646262
• ClinVar RCV Id: RCV003417663
• dbSNP Id: rs749415846
• ExAC: 16:16244593 G / A
• gnomAD v2: 16-16244593-G-A
• gnomAD v4: 16-16150736-G-A
• MyVariant Identifiers: chr16:g.16244593G>A (hg19) ; chr16:g.16150736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150736G>A , CM000678.2:g.16150736G>A	GRCh38
NC_000016.9:g.16244593G>A , CM000678.1:g.16244593G>A	GRCh37
NC_000016.8:g.16152094G>A	NCBI36
NG_007558.2:g.77736C>T
NG_007558.3:g.77882C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*417C>T	ENSP00000483331.2:n.*417C>T
ENST00000205557.12:c.4245C>T MANE Select	ENSP00000205557.7:p.Ala1415=
ENST00000640696.1:c.1059C>T	ENSP00000492197.1:p.Ala353=
ENST00000205557.11:c.4245C>T	ENSP00000205557.7:p.Ala1415=
ENST00000456970.6:c.3870C>T	ENSP00000405002.2:n.3870C>T
ENST00000576204.5:n.1108C>T
ENST00000622290.4:c.*1454C>T	ENSP00000483331.1:n.*1454C>T
NM_001171.5:c.4245C>T	NP_001162.4:p.Ala1415=
XM_011522479.1:c.4212C>T	XP_011520781.1:p.Ala1404=
XM_011522480.1:c.3903C>T	XP_011520782.1:p.Ala1301=
XM_011522481.1:c.3903C>T	XP_011520783.1:p.Ala1301=
XR_933134.1:n.538+6446G>A
NM_001351800.1:c.3903C>T	NP_001338729.1:p.Ala1301=
NR_147784.1:n.3907C>T
XM_011522479.2:c.4212C>T	XP_011520781.1:p.Ala1404=
XM_011522481.3:c.3903C>T	XP_011520783.1:p.Ala1301=
XM_017023212.1:c.4077C>T	XP_016878701.1:p.Ala1359=
XM_024450261.1:c.4281C>T	XP_024306029.1:p.Ala1427=
NM_001171.6:c.4245C>T MANE Select	NP_001162.5:p.Ala1415=