Canonical Allele Identifier: CA7925372

Gene: ABCC6

Linked Data

• dbSNP Id: rs774787962
• ExAC: 16:16248859 C / T
• gnomAD v2: 16-16248859-C-T
• gnomAD v4: 16-16155002-C-T
• MyVariant Identifiers: chr16:g.16248859C>T (hg19) ; chr16:g.16155002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155002C>T , CM000678.2:g.16155002C>T	GRCh38
NC_000016.9:g.16248859C>T , CM000678.1:g.16248859C>T	GRCh37
NC_000016.8:g.16156360C>T	NCBI36
NG_007558.2:g.73470G>A
NG_007558.3:g.73616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.775G>A
ENST00000622290.5:c.*84G>A	ENSP00000483331.2:n.*84G>A
ENST00000205557.12:c.3912G>A MANE Select	ENSP00000205557.7:p.Gly1304=
ENST00000640696.1:c.726G>A	ENSP00000492197.1:p.Gly242=
ENST00000205557.11:c.3912G>A	ENSP00000205557.7:p.Gly1304=
ENST00000456970.6:c.3537G>A	ENSP00000405002.2:n.3537G>A
ENST00000576204.5:n.775G>A
ENST00000622290.4:c.*1121G>A	ENSP00000483331.1:n.*1121G>A
NM_001171.5:c.3912G>A	NP_001162.4:p.Gly1304=
XM_011522479.1:c.3879G>A	XP_011520781.1:p.Gly1293=
XM_011522480.1:c.3570G>A	XP_011520782.1:p.Gly1190=
XM_011522481.1:c.3570G>A	XP_011520783.1:p.Gly1190=
XR_932836.1:n.4210G>A
XR_932837.1:n.3948G>A
XR_932838.1:n.4011G>A
XR_933134.1:n.539-4779C>T
NM_001351800.1:c.3570G>A	NP_001338729.1:p.Gly1190=
NR_147784.1:n.3574G>A
XM_011522479.2:c.3879G>A	XP_011520781.1:p.Gly1293=
XM_011522481.3:c.3570G>A	XP_011520783.1:p.Gly1190=
XM_017023212.1:c.3744G>A	XP_016878701.1:p.Gly1248=
XM_024450261.1:c.3948G>A	XP_024306029.1:p.Gly1316=
XR_932836.2:n.4156G>A
XR_932837.3:n.3893G>A
XR_932838.3:n.3956G>A
NM_001171.6:c.3912G>A MANE Select	NP_001162.5:p.Gly1304=