Canonical Allele Identifier: CA394876211

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155015-C-T
• MyVariant Identifiers: chr16:g.16248872C>T (hg19) ; chr16:g.16155015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155015C>T , CM000678.2:g.16155015C>T	GRCh38
NC_000016.9:g.16248872C>T , CM000678.1:g.16248872C>T	GRCh37
NC_000016.8:g.16156373C>T	NCBI36
NG_007558.2:g.73457G>A
NG_007558.3:g.73603G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.762G>A
ENST00000622290.5:c.*71G>A	ENSP00000483331.2:n.*71G>A
ENST00000205557.12:c.3899G>A MANE Select	ENSP00000205557.7:p.Arg1300Lys
ENST00000640696.1:c.713G>A	ENSP00000492197.1:p.Arg238Lys
ENST00000205557.11:c.3899G>A	ENSP00000205557.7:p.Arg1300Lys
ENST00000456970.6:c.3524G>A	ENSP00000405002.2:n.3524G>A
ENST00000576204.5:n.762G>A
ENST00000622290.4:c.*1108G>A	ENSP00000483331.1:n.*1108G>A
NM_001171.5:c.3899G>A	NP_001162.4:p.Arg1300Lys
XM_011522479.1:c.3866G>A	XP_011520781.1:p.Arg1289Lys
XM_011522480.1:c.3557G>A	XP_011520782.1:p.Arg1186Lys
XM_011522481.1:c.3557G>A	XP_011520783.1:p.Arg1186Lys
XR_932836.1:n.4197G>A
XR_932837.1:n.3935G>A
XR_932838.1:n.3998G>A
XR_933134.1:n.539-4766C>T
NM_001351800.1:c.3557G>A	NP_001338729.1:p.Arg1186Lys
NR_147784.1:n.3561G>A
XM_011522479.2:c.3866G>A	XP_011520781.1:p.Arg1289Lys
XM_011522481.3:c.3557G>A	XP_011520783.1:p.Arg1186Lys
XM_017023212.1:c.3731G>A	XP_016878701.1:p.Arg1244Lys
XM_024450261.1:c.3935G>A	XP_024306029.1:p.Arg1312Lys
XR_932836.2:n.4143G>A
XR_932837.3:n.3880G>A
XR_932838.3:n.3943G>A
NM_001171.6:c.3899G>A MANE Select	NP_001162.5:p.Arg1300Lys