Canonical Allele Identifier: CA7925481

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1955779
• ClinVar RCV Id: RCV002720090
• dbSNP Id: rs747993729
• ExAC: 16:16253375 C / T
• gnomAD v2: 16-16253375-C-T
• gnomAD v3: 16-16159518-C-T
• gnomAD v4: 16-16159518-C-T
• MyVariant Identifiers: chr16:g.16253375C>T (hg19) ; chr16:g.16159518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159518C>T , CM000678.2:g.16159518C>T	GRCh38
NC_000016.9:g.16253375C>T , CM000678.1:g.16253375C>T	GRCh37
NC_000016.8:g.16160876C>T	NCBI36
NG_007558.2:g.68954G>A
NG_007558.3:g.69100G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3699G>A	ENSP00000483331.2:p.Val1233=
ENST00000205557.12:c.3699G>A MANE Select	ENSP00000205557.7:p.Val1233=
ENST00000640696.1:c.513G>A	ENSP00000492197.1:p.Val171=
ENST00000205557.11:c.3699G>A	ENSP00000205557.7:p.Val1233=
ENST00000456970.6:c.3324G>A	ENSP00000405002.2:n.3324G>A
ENST00000622290.4:c.*908G>A	ENSP00000483331.1:n.*908G>A
NM_001171.5:c.3699G>A	NP_001162.4:p.Val1233=
XM_011522479.1:c.3666G>A	XP_011520781.1:p.Val1222=
XM_011522480.1:c.3357G>A	XP_011520782.1:p.Val1119=
XM_011522481.1:c.3357G>A	XP_011520783.1:p.Val1119=
XR_932836.1:n.3934G>A
XR_932837.1:n.3735G>A
XR_932838.1:n.3735G>A
XR_933134.1:n.539-263C>T
NM_001351800.1:c.3357G>A	NP_001338729.1:p.Val1119=
NR_147784.1:n.3361G>A
XM_011522479.2:c.3666G>A	XP_011520781.1:p.Val1222=
XM_011522481.3:c.3357G>A	XP_011520783.1:p.Val1119=
XM_017023212.1:c.3531G>A	XP_016878701.1:p.Val1177=
XM_024450261.1:c.3735G>A	XP_024306029.1:p.Val1245=
XR_932836.2:n.3880G>A
XR_932837.3:n.3680G>A
XR_932838.3:n.3680G>A
NM_001171.6:c.3699G>A MANE Select	NP_001162.5:p.Val1233=