Canonical Allele Identifier: CA493799561

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2125745
• ClinVar RCV Id: RCV003043773
• gnomAD v4: 16-16150733-A-G
• MyVariant Identifiers: chr16:g.16244590A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150733A>G , CM000678.2:g.16150733A>G	GRCh38
NC_000016.9:g.16244590A>G , CM000678.1:g.16244590A>G	GRCh37
NC_000016.8:g.16152091A>G	NCBI36
NG_007558.2:g.77739T>C
NG_007558.3:g.77885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*420T>C	ENSP00000483331.2:n.*420T>C
ENST00000205557.12:c.4248T>C MANE Select	ENSP00000205557.7:p.Leu1416=
ENST00000640696.1:c.1062T>C	ENSP00000492197.1:p.Leu354=
ENST00000205557.11:c.4248T>C	ENSP00000205557.7:p.Leu1416=
ENST00000456970.6:c.3873T>C	ENSP00000405002.2:n.3873T>C
ENST00000576204.5:n.1111T>C
ENST00000622290.4:c.*1457T>C	ENSP00000483331.1:n.*1457T>C
NM_001171.5:c.4248T>C	NP_001162.4:p.Leu1416=
XM_011522479.1:c.4215T>C	XP_011520781.1:p.Leu1405=
XM_011522480.1:c.3906T>C	XP_011520782.1:p.Leu1302=
XM_011522481.1:c.3906T>C	XP_011520783.1:p.Leu1302=
XR_933134.1:n.538+6443A>G
NM_001351800.1:c.3906T>C	NP_001338729.1:p.Leu1302=
NR_147784.1:n.3910T>C
XM_011522479.2:c.4215T>C	XP_011520781.1:p.Leu1405=
XM_011522481.3:c.3906T>C	XP_011520783.1:p.Leu1302=
XM_017023212.1:c.4080T>C	XP_016878701.1:p.Leu1360=
XM_024450261.1:c.4284T>C	XP_024306029.1:p.Leu1428=
NM_001171.6:c.4248T>C MANE Select	NP_001162.5:p.Leu1416=