Canonical Allele Identifier: CA7925321

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1988810
• ClinVar RCV Id: RCV002781487
• dbSNP Id: rs758486813
• ExAC: 16:16248637 G / A
• gnomAD v2: 16-16248637-G-A
• gnomAD v3: 16-16154780-G-A
• gnomAD v4: 16-16154780-G-A
• COSMIC: COSM4394962
• MyVariant Identifiers: chr16:g.16248637G>A (hg19) ; chr16:g.16154780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154780G>A , CM000678.2:g.16154780G>A	GRCh38
NC_000016.9:g.16248637G>A , CM000678.1:g.16248637G>A	GRCh37
NC_000016.8:g.16156138G>A	NCBI36
NG_007558.2:g.73692C>T
NG_007558.3:g.73838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.919C>T
ENST00000622290.5:c.*228C>T	ENSP00000483331.2:n.*228C>T
ENST00000205557.12:c.4056C>T MANE Select	ENSP00000205557.7:p.Phe1352=
ENST00000640696.1:c.870C>T	ENSP00000492197.1:p.Phe290=
ENST00000205557.11:c.4056C>T	ENSP00000205557.7:p.Phe1352=
ENST00000456970.6:c.3681C>T	ENSP00000405002.2:n.3681C>T
ENST00000576204.5:n.919C>T
ENST00000622290.4:c.*1265C>T	ENSP00000483331.1:n.*1265C>T
NM_001171.5:c.4056C>T	NP_001162.4:p.Phe1352=
XM_011522479.1:c.4023C>T	XP_011520781.1:p.Phe1341=
XM_011522480.1:c.3714C>T	XP_011520782.1:p.Phe1238=
XM_011522481.1:c.3714C>T	XP_011520783.1:p.Phe1238=
XR_933134.1:n.539-5001G>A
NM_001351800.1:c.3714C>T	NP_001338729.1:p.Phe1238=
NR_147784.1:n.3718C>T
XM_011522479.2:c.4023C>T	XP_011520781.1:p.Phe1341=
XM_011522481.3:c.3714C>T	XP_011520783.1:p.Phe1238=
XM_017023212.1:c.3888C>T	XP_016878701.1:p.Phe1296=
XM_024450261.1:c.4092C>T	XP_024306029.1:p.Phe1364=
NM_001171.6:c.4056C>T MANE Select	NP_001162.5:p.Phe1352=