Canonical Allele Identifier: CA278676784

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2112854
• ClinVar RCV Id: RCV003034788
• dbSNP Id: rs1021172050
• MyVariant Identifiers: chr16:g.16248502G>A (hg19) ; chr16:g.16154645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154645G>A , CM000678.2:g.16154645G>A	GRCh38
NC_000016.9:g.16248502G>A , CM000678.1:g.16248502G>A	GRCh37
NC_000016.8:g.16156003G>A	NCBI36
NG_007558.2:g.73827C>T
NG_007558.3:g.73973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*363C>T	ENSP00000483331.2:n.*363C>T
ENST00000205557.12:c.4191C>T MANE Select	ENSP00000205557.7:p.Asp1397=
ENST00000640696.1:c.1005C>T	ENSP00000492197.1:p.Asp335=
ENST00000205557.11:c.4191C>T	ENSP00000205557.7:p.Asp1397=
ENST00000456970.6:c.3816C>T	ENSP00000405002.2:n.3816C>T
ENST00000576204.5:n.1054C>T
ENST00000622290.4:c.*1400C>T	ENSP00000483331.1:n.*1400C>T
NM_001171.5:c.4191C>T	NP_001162.4:p.Asp1397=
XM_011522479.1:c.4158C>T	XP_011520781.1:p.Asp1386=
XM_011522480.1:c.3849C>T	XP_011520782.1:p.Asp1283=
XM_011522481.1:c.3849C>T	XP_011520783.1:p.Asp1283=
XR_933134.1:n.539-5136G>A
NM_001351800.1:c.3849C>T	NP_001338729.1:p.Asp1283=
NR_147784.1:n.3853C>T
XM_011522479.2:c.4158C>T	XP_011520781.1:p.Asp1386=
XM_011522481.3:c.3849C>T	XP_011520783.1:p.Asp1283=
XM_017023212.1:c.4023C>T	XP_016878701.1:p.Asp1341=
XM_024450261.1:c.4227C>T	XP_024306029.1:p.Asp1409=
NM_001171.6:c.4191C>T MANE Select	NP_001162.5:p.Asp1397=