Canonical Allele Identifier: CA7925215

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1652239
• ClinVar RCV Id: RCV002156014
• dbSNP Id: rs63750763
• ExAC: 16:16244461 G / C
• gnomAD v2: 16-16244461-G-C
• gnomAD v3: 16-16150604-G-C
• gnomAD v4: 16-16150604-G-C
• MyVariant Identifiers: chr16:g.16244461G>C (hg19) ; chr16:g.16150604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150604G>C , CM000678.2:g.16150604G>C	GRCh38
NC_000016.9:g.16244461G>C , CM000678.1:g.16244461G>C	GRCh37
NC_000016.8:g.16151962G>C	NCBI36
NG_007558.2:g.77868C>G
NG_007558.3:g.78014C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*549C>G	ENSP00000483331.2:n.*549C>G
ENST00000205557.12:c.4377C>G MANE Select	ENSP00000205557.7:p.Arg1459=
ENST00000640696.1:c.1191C>G	ENSP00000492197.1:p.Arg397=
ENST00000205557.11:c.4377C>G	ENSP00000205557.7:p.Arg1459=
ENST00000456970.6:c.4002C>G	ENSP00000405002.2:n.4002C>G
ENST00000576204.5:n.1240C>G
ENST00000622290.4:c.*1586C>G	ENSP00000483331.1:n.*1586C>G
NM_001171.5:c.4377C>G	NP_001162.4:p.Arg1459=
XM_011522479.1:c.4344C>G	XP_011520781.1:p.Arg1448=
XM_011522480.1:c.4035C>G	XP_011520782.1:p.Arg1345=
XM_011522481.1:c.4035C>G	XP_011520783.1:p.Arg1345=
XR_933134.1:n.538+6314G>C
NM_001351800.1:c.4035C>G	NP_001338729.1:p.Arg1345=
NR_147784.1:n.4039C>G
XM_011522479.2:c.4344C>G	XP_011520781.1:p.Arg1448=
XM_011522481.3:c.4035C>G	XP_011520783.1:p.Arg1345=
XM_017023212.1:c.4209C>G	XP_016878701.1:p.Arg1403=
XM_024450261.1:c.4413C>G	XP_024306029.1:p.Arg1471=
NM_001171.6:c.4377C>G MANE Select	NP_001162.5:p.Arg1459=