Canonical Allele Identifier: CA394885467

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16173285-C-T
• MyVariant Identifiers: chr16:g.16267142C>T (hg19) ; chr16:g.16173285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173285C>T , CM000678.2:g.16173285C>T	GRCh38
NC_000016.9:g.16267142C>T , CM000678.1:g.16267142C>T	GRCh37
NC_000016.8:g.16174643C>T	NCBI36
NG_007558.2:g.55187G>A
NG_007558.3:g.55333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2786G>A	ENSP00000483331.2:p.Arg929Lys
ENST00000205557.12:c.2786G>A MANE Select	ENSP00000205557.7:p.Arg929Lys
ENST00000205557.11:c.2786G>A	ENSP00000205557.7:p.Arg929Lys
ENST00000456970.6:c.2611G>A	ENSP00000405002.2:p.Gly871Arg
ENST00000576683.1:n.273G>A
ENST00000622290.4:c.2611G>A	ENSP00000483331.1:p.Gly871Arg
NM_001171.5:c.2786G>A	NP_001162.4:p.Arg929Lys
XM_011522479.1:c.2753G>A	XP_011520781.1:p.Arg918Lys
XM_011522480.1:c.2444G>A	XP_011520782.1:p.Arg815Lys
XM_011522481.1:c.2444G>A	XP_011520783.1:p.Arg815Lys
XR_932836.1:n.3021G>A
XR_932837.1:n.3022G>A
XR_932838.1:n.3022G>A
NM_001351800.1:c.2444G>A	NP_001338729.1:p.Arg815Lys
NR_147784.1:n.2648G>A
XM_011522479.2:c.2753G>A	XP_011520781.1:p.Arg918Lys
XM_011522481.3:c.2444G>A	XP_011520783.1:p.Arg815Lys
XM_017023212.1:c.2618G>A	XP_016878701.1:p.Arg873Lys
XM_017023214.1:c.2786G>A	XP_016878703.1:p.Arg929Lys
XM_024450261.1:c.2822G>A	XP_024306029.1:p.Arg941Lys
XR_932836.2:n.2967G>A
XR_932837.3:n.2967G>A
XR_932838.3:n.2967G>A
NM_001171.6:c.2786G>A MANE Select	NP_001162.5:p.Arg929Lys