Canonical Allele Identifier: CA394884368

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1679599
• ClinVar RCV Id: RCV002227623
• dbSNP Id: rs1021172050
• MyVariant Identifiers: chr16:g.16248502G>C (hg19) ; chr16:g.16154645G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*363C>G	ENSP00000483331.2:n.*363C>G
ENST00000205557.12:c.4191C>G MANE Select	ENSP00000205557.7:p.Asp1397Glu
ENST00000640696.1:c.1005C>G	ENSP00000492197.1:p.Asp335Glu
ENST00000205557.11:c.4191C>G	ENSP00000205557.7:p.Asp1397Glu
ENST00000456970.6:c.3816C>G	ENSP00000405002.2:n.3816C>G
ENST00000576204.5:n.1054C>G
ENST00000622290.4:c.*1400C>G	ENSP00000483331.1:n.*1400C>G
NM_001171.5:c.4191C>G	NP_001162.4:p.Asp1397Glu
XM_011522479.1:c.4158C>G	XP_011520781.1:p.Asp1386Glu
XM_011522480.1:c.3849C>G	XP_011520782.1:p.Asp1283Glu
XM_011522481.1:c.3849C>G	XP_011520783.1:p.Asp1283Glu
XR_933134.1:n.539-5136G>C
NM_001351800.1:c.3849C>G	NP_001338729.1:p.Asp1283Glu
NR_147784.1:n.3853C>G
XM_011522479.2:c.4158C>G	XP_011520781.1:p.Asp1386Glu
XM_011522481.3:c.3849C>G	XP_011520783.1:p.Asp1283Glu
XM_017023212.1:c.4023C>G	XP_016878701.1:p.Asp1341Glu
XM_024450261.1:c.4227C>G	XP_024306029.1:p.Asp1409Glu
NM_001171.6:c.4191C>G MANE Select	NP_001162.5:p.Asp1397Glu