Canonical Allele Identifier: CA7925323

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 3013035
• ClinVar RCV Id: RCV003878146
• dbSNP Id: rs141821068
• ExAC: 16:16248643 G / A
• gnomAD v4: 16-16154786-G-A
• MyVariant Identifiers: chr16:g.16248643G>A (hg19) ; chr16:g.16154786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154786G>A , CM000678.2:g.16154786G>A	GRCh38
NC_000016.9:g.16248643G>A , CM000678.1:g.16248643G>A	GRCh37
NC_000016.8:g.16156144G>A	NCBI36
NG_007558.2:g.73686C>T
NG_007558.3:g.73832C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.913C>T
ENST00000622290.5:c.*222C>T	ENSP00000483331.2:n.*222C>T
ENST00000205557.12:c.4050C>T MANE Select	ENSP00000205557.7:p.Ile1350=
ENST00000640696.1:c.864C>T	ENSP00000492197.1:p.Ile288=
ENST00000205557.11:c.4050C>T	ENSP00000205557.7:p.Ile1350=
ENST00000456970.6:c.3675C>T	ENSP00000405002.2:n.3675C>T
ENST00000576204.5:n.913C>T
ENST00000622290.4:c.*1259C>T	ENSP00000483331.1:n.*1259C>T
NM_001171.5:c.4050C>T	NP_001162.4:p.Ile1350=
XM_011522479.1:c.4017C>T	XP_011520781.1:p.Ile1339=
XM_011522480.1:c.3708C>T	XP_011520782.1:p.Ile1236=
XM_011522481.1:c.3708C>T	XP_011520783.1:p.Ile1236=
XR_933134.1:n.539-4995G>A
NM_001351800.1:c.3708C>T	NP_001338729.1:p.Ile1236=
NR_147784.1:n.3712C>T
XM_011522479.2:c.4017C>T	XP_011520781.1:p.Ile1339=
XM_011522481.3:c.3708C>T	XP_011520783.1:p.Ile1236=
XM_017023212.1:c.3882C>T	XP_016878701.1:p.Ile1294=
XM_024450261.1:c.4086C>T	XP_024306029.1:p.Ile1362=
NM_001171.6:c.4050C>T MANE Select	NP_001162.5:p.Ile1350=