Canonical Allele Identifier: CA7925311

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1562830
• ClinVar RCV Id: RCV002206678
• dbSNP Id: rs199668617
• ExAC: 16:16248589 G / A
• gnomAD v2: 16-16248589-G-A
• gnomAD v3: 16-16154732-G-A
• gnomAD v4: 16-16154732-G-A
• MyVariant Identifiers: chr16:g.16248589G>A (hg19) ; chr16:g.16154732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154732G>A , CM000678.2:g.16154732G>A	GRCh38
NC_000016.9:g.16248589G>A , CM000678.1:g.16248589G>A	GRCh37
NC_000016.8:g.16156090G>A	NCBI36
NG_007558.2:g.73740C>T
NG_007558.3:g.73886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.967C>T
ENST00000622290.5:c.*276C>T	ENSP00000483331.2:n.*276C>T
ENST00000205557.12:c.4104C>T MANE Select	ENSP00000205557.7:p.Asp1368=
ENST00000640696.1:c.918C>T	ENSP00000492197.1:p.Asp306=
ENST00000205557.11:c.4104C>T	ENSP00000205557.7:p.Asp1368=
ENST00000456970.6:c.3729C>T	ENSP00000405002.2:n.3729C>T
ENST00000576204.5:n.967C>T
ENST00000622290.4:c.*1313C>T	ENSP00000483331.1:n.*1313C>T
NM_001171.5:c.4104C>T	NP_001162.4:p.Asp1368=
XM_011522479.1:c.4071C>T	XP_011520781.1:p.Asp1357=
XM_011522480.1:c.3762C>T	XP_011520782.1:p.Asp1254=
XM_011522481.1:c.3762C>T	XP_011520783.1:p.Asp1254=
XR_933134.1:n.539-5049G>A
NM_001351800.1:c.3762C>T	NP_001338729.1:p.Asp1254=
NR_147784.1:n.3766C>T
XM_011522479.2:c.4071C>T	XP_011520781.1:p.Asp1357=
XM_011522481.3:c.3762C>T	XP_011520783.1:p.Asp1254=
XM_017023212.1:c.3936C>T	XP_016878701.1:p.Asp1312=
XM_024450261.1:c.4140C>T	XP_024306029.1:p.Asp1380=
NM_001171.6:c.4104C>T MANE Select	NP_001162.5:p.Asp1368=