Canonical Allele Identifier: CA493797446

Gene: ABCC6

Linked Data

• dbSNP Id: rs1165153151
• gnomAD v2: 16-16248865-C-T
• gnomAD v3: 16-16155008-C-T
• gnomAD v4: 16-16155008-C-T
• COSMIC: COSM4545990
• MyVariant Identifiers: chr16:g.16248865C>T (hg19) ; chr16:g.16155008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155008C>T , CM000678.2:g.16155008C>T	GRCh38
NC_000016.9:g.16248865C>T , CM000678.1:g.16248865C>T	GRCh37
NC_000016.8:g.16156366C>T	NCBI36
NG_007558.2:g.73464G>A
NG_007558.3:g.73610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.769G>A
ENST00000622290.5:c.*78G>A	ENSP00000483331.2:n.*78G>A
ENST00000205557.12:c.3906G>A MANE Select	ENSP00000205557.7:p.Gly1302=
ENST00000640696.1:c.720G>A	ENSP00000492197.1:p.Gly240=
ENST00000205557.11:c.3906G>A	ENSP00000205557.7:p.Gly1302=
ENST00000456970.6:c.3531G>A	ENSP00000405002.2:n.3531G>A
ENST00000576204.5:n.769G>A
ENST00000622290.4:c.*1115G>A	ENSP00000483331.1:n.*1115G>A
NM_001171.5:c.3906G>A	NP_001162.4:p.Gly1302=
XM_011522479.1:c.3873G>A	XP_011520781.1:p.Gly1291=
XM_011522480.1:c.3564G>A	XP_011520782.1:p.Gly1188=
XM_011522481.1:c.3564G>A	XP_011520783.1:p.Gly1188=
XR_932836.1:n.4204G>A
XR_932837.1:n.3942G>A
XR_932838.1:n.4005G>A
XR_933134.1:n.539-4773C>T
NM_001351800.1:c.3564G>A	NP_001338729.1:p.Gly1188=
NR_147784.1:n.3568G>A
XM_011522479.2:c.3873G>A	XP_011520781.1:p.Gly1291=
XM_011522481.3:c.3564G>A	XP_011520783.1:p.Gly1188=
XM_017023212.1:c.3738G>A	XP_016878701.1:p.Gly1246=
XM_024450261.1:c.3942G>A	XP_024306029.1:p.Gly1314=
XR_932836.2:n.4150G>A
XR_932837.3:n.3887G>A
XR_932838.3:n.3950G>A
NM_001171.6:c.3906G>A MANE Select	NP_001162.5:p.Gly1302=