Canonical Allele Identifier: CA7925487

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433320
• ClinVar RCV Id: RCV000499367 ; RCV001310321 ; RCV002496927
• dbSNP Id: rs63751001
• ExAC: 16:16253412 C / T
• gnomAD v2: 16-16253412-C-T
• gnomAD v3: 16-16159555-C-T
• gnomAD v4: 16-16159555-C-T
• MyVariant Identifiers: chr16:g.16253412C>T (hg19) ; chr16:g.16159555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159555C>T , CM000678.2:g.16159555C>T	GRCh38
NC_000016.9:g.16253412C>T , CM000678.1:g.16253412C>T	GRCh37
NC_000016.8:g.16160913C>T	NCBI36
NG_007558.2:g.68917G>A
NG_007558.3:g.69063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3662G>A	ENSP00000483331.2:p.Arg1221His
ENST00000205557.12:c.3662G>A MANE Select	ENSP00000205557.7:p.Arg1221His
ENST00000640696.1:c.476G>A	ENSP00000492197.1:p.Arg159His
ENST00000205557.11:c.3662G>A	ENSP00000205557.7:p.Arg1221His
ENST00000456970.6:c.3287G>A	ENSP00000405002.2:n.3287G>A
ENST00000622290.4:c.*871G>A	ENSP00000483331.1:n.*871G>A
NM_001171.5:c.3662G>A	NP_001162.4:p.Arg1221His
XM_011522479.1:c.3629G>A	XP_011520781.1:p.Arg1210His
XM_011522480.1:c.3320G>A	XP_011520782.1:p.Arg1107His
XM_011522481.1:c.3320G>A	XP_011520783.1:p.Arg1107His
XR_932836.1:n.3897G>A
XR_932837.1:n.3698G>A
XR_932838.1:n.3698G>A
XR_933134.1:n.539-226C>T
NM_001351800.1:c.3320G>A	NP_001338729.1:p.Arg1107His
NR_147784.1:n.3324G>A
XM_011522479.2:c.3629G>A	XP_011520781.1:p.Arg1210His
XM_011522481.3:c.3320G>A	XP_011520783.1:p.Arg1107His
XM_017023212.1:c.3494G>A	XP_016878701.1:p.Arg1165His
XM_024450261.1:c.3698G>A	XP_024306029.1:p.Arg1233His
XR_932836.2:n.3843G>A
XR_932837.3:n.3643G>A
XR_932838.3:n.3643G>A
NM_001171.6:c.3662G>A MANE Select	NP_001162.5:p.Arg1221His