Canonical Allele Identifier: CA493797453

Gene: ABCC6

Linked Data

• dbSNP Id: rs201812902
• gnomAD v4: 16-16155011-G-C
• MyVariant Identifiers: chr16:g.16248868G>C (hg19) ; chr16:g.16155011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155011G>C , CM000678.2:g.16155011G>C	GRCh38
NC_000016.9:g.16248868G>C , CM000678.1:g.16248868G>C	GRCh37
NC_000016.8:g.16156369G>C	NCBI36
NG_007558.2:g.73461C>G
NG_007558.3:g.73607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.766C>G
ENST00000622290.5:c.*75C>G	ENSP00000483331.2:n.*75C>G
ENST00000205557.12:c.3903C>G MANE Select	ENSP00000205557.7:p.Thr1301=
ENST00000640696.1:c.717C>G	ENSP00000492197.1:p.Thr239=
ENST00000205557.11:c.3903C>G	ENSP00000205557.7:p.Thr1301=
ENST00000456970.6:c.3528C>G	ENSP00000405002.2:n.3528C>G
ENST00000576204.5:n.766C>G
ENST00000622290.4:c.*1112C>G	ENSP00000483331.1:n.*1112C>G
NM_001171.5:c.3903C>G	NP_001162.4:p.Thr1301=
XM_011522479.1:c.3870C>G	XP_011520781.1:p.Thr1290=
XM_011522480.1:c.3561C>G	XP_011520782.1:p.Thr1187=
XM_011522481.1:c.3561C>G	XP_011520783.1:p.Thr1187=
XR_932836.1:n.4201C>G
XR_932837.1:n.3939C>G
XR_932838.1:n.4002C>G
XR_933134.1:n.539-4770G>C
NM_001351800.1:c.3561C>G	NP_001338729.1:p.Thr1187=
NR_147784.1:n.3565C>G
XM_011522479.2:c.3870C>G	XP_011520781.1:p.Thr1290=
XM_011522481.3:c.3561C>G	XP_011520783.1:p.Thr1187=
XM_017023212.1:c.3735C>G	XP_016878701.1:p.Thr1245=
XM_024450261.1:c.3939C>G	XP_024306029.1:p.Thr1313=
XR_932836.2:n.4147C>G
XR_932837.3:n.3884C>G
XR_932838.3:n.3947C>G
NM_001171.6:c.3903C>G MANE Select	NP_001162.5:p.Thr1301=