Canonical Allele Identifier: CA394876207

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248872C>G (hg19) ; chr16:g.16155015C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.762G>C
ENST00000622290.5:c.*71G>C	ENSP00000483331.2:n.*71G>C
ENST00000205557.12:c.3899G>C MANE Select	ENSP00000205557.7:p.Arg1300Thr
ENST00000640696.1:c.713G>C	ENSP00000492197.1:p.Arg238Thr
ENST00000205557.11:c.3899G>C	ENSP00000205557.7:p.Arg1300Thr
ENST00000456970.6:c.3524G>C	ENSP00000405002.2:n.3524G>C
ENST00000576204.5:n.762G>C
ENST00000622290.4:c.*1108G>C	ENSP00000483331.1:n.*1108G>C
NM_001171.5:c.3899G>C	NP_001162.4:p.Arg1300Thr
XM_011522479.1:c.3866G>C	XP_011520781.1:p.Arg1289Thr
XM_011522480.1:c.3557G>C	XP_011520782.1:p.Arg1186Thr
XM_011522481.1:c.3557G>C	XP_011520783.1:p.Arg1186Thr
XR_932836.1:n.4197G>C
XR_932837.1:n.3935G>C
XR_932838.1:n.3998G>C
XR_933134.1:n.539-4766C>G
NM_001351800.1:c.3557G>C	NP_001338729.1:p.Arg1186Thr
NR_147784.1:n.3561G>C
XM_011522479.2:c.3866G>C	XP_011520781.1:p.Arg1289Thr
XM_011522481.3:c.3557G>C	XP_011520783.1:p.Arg1186Thr
XM_017023212.1:c.3731G>C	XP_016878701.1:p.Arg1244Thr
XM_024450261.1:c.3935G>C	XP_024306029.1:p.Arg1312Thr
XR_932836.2:n.4143G>C
XR_932837.3:n.3880G>C
XR_932838.3:n.3943G>C
NM_001171.6:c.3899G>C MANE Select	NP_001162.5:p.Arg1300Thr