Canonical Allele Identifier: CA7925796

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 423872
• ClinVar RCV Id: RCV000481724 ; RCV002481534
• dbSNP Id: rs142470921
• ExAC: 16:16267146 C / T
• gnomAD v2: 16-16267146-C-T
• gnomAD v3: 16-16173289-C-T
• gnomAD v4: 16-16173289-C-T
• MyVariant Identifiers: chr16:g.16267146C>T (hg19) ; chr16:g.16173289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173289C>T , CM000678.2:g.16173289C>T	GRCh38
NC_000016.9:g.16267146C>T , CM000678.1:g.16267146C>T	GRCh37
NC_000016.8:g.16174647C>T	NCBI36
NG_007558.2:g.55183G>A
NG_007558.3:g.55329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2782G>A	ENSP00000483331.2:p.Gly928Ser
ENST00000205557.12:c.2782G>A MANE Select	ENSP00000205557.7:p.Gly928Ser
ENST00000205557.11:c.2782G>A	ENSP00000205557.7:p.Gly928Ser
ENST00000456970.6:c.2607G>A	ENSP00000405002.2:p.Thr869=
ENST00000576683.1:n.269G>A
ENST00000622290.4:c.2607G>A	ENSP00000483331.1:p.Thr869=
NM_001171.5:c.2782G>A	NP_001162.4:p.Gly928Ser
XM_011522479.1:c.2749G>A	XP_011520781.1:p.Gly917Ser
XM_011522480.1:c.2440G>A	XP_011520782.1:p.Gly814Ser
XM_011522481.1:c.2440G>A	XP_011520783.1:p.Gly814Ser
XR_932836.1:n.3017G>A
XR_932837.1:n.3018G>A
XR_932838.1:n.3018G>A
NM_001351800.1:c.2440G>A	NP_001338729.1:p.Gly814Ser
NR_147784.1:n.2644G>A
XM_011522479.2:c.2749G>A	XP_011520781.1:p.Gly917Ser
XM_011522481.3:c.2440G>A	XP_011520783.1:p.Gly814Ser
XM_017023212.1:c.2614G>A	XP_016878701.1:p.Gly872Ser
XM_017023214.1:c.2782G>A	XP_016878703.1:p.Gly928Ser
XM_024450261.1:c.2818G>A	XP_024306029.1:p.Gly940Ser
XR_932836.2:n.2963G>A
XR_932837.3:n.2963G>A
XR_932838.3:n.2963G>A
NM_001171.6:c.2782G>A MANE Select	NP_001162.5:p.Gly928Ser