Canonical Allele Identifier: CA7925767

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 381637
• ClinVar RCV Id: RCV000437137 ; RCV000499095 ; RCV002253431 ; RCV004533000 ; RCV002253430
• dbSNP Id: rs72657689
• ExAC: 16:16263650 C / T
• gnomAD v2: 16-16263650-C-T
• gnomAD v3: 16-16169793-C-T
• gnomAD v4: 16-16169793-C-T
• MyVariant Identifiers: chr16:g.16263650C>T (hg19) ; chr16:g.16169793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169793C>T , CM000678.2:g.16169793C>T	GRCh38
NC_000016.9:g.16263650C>T , CM000678.1:g.16263650C>T	GRCh37
NC_000016.8:g.16171151C>T	NCBI36
NG_007558.2:g.58679G>A
NG_007558.3:g.58825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2848G>A	ENSP00000483331.2:p.Ala950Thr
ENST00000205557.12:c.2848G>A MANE Select	ENSP00000205557.7:p.Ala950Thr
ENST00000205557.11:c.2848G>A	ENSP00000205557.7:p.Ala950Thr
ENST00000456970.6:c.2673G>A	ENSP00000405002.2:n.2673G>A
ENST00000622290.4:c.*57G>A	ENSP00000483331.1:n.*57G>A
NM_001171.5:c.2848G>A	NP_001162.4:p.Ala950Thr
XM_011522479.1:c.2815G>A	XP_011520781.1:p.Ala939Thr
XM_011522480.1:c.2506G>A	XP_011520782.1:p.Ala836Thr
XM_011522481.1:c.2506G>A	XP_011520783.1:p.Ala836Thr
XR_932836.1:n.3083G>A
XR_932837.1:n.3084G>A
XR_932838.1:n.3084G>A
NM_001351800.1:c.2506G>A	NP_001338729.1:p.Ala836Thr
NR_147784.1:n.2710G>A
XM_011522479.2:c.2815G>A	XP_011520781.1:p.Ala939Thr
XM_011522481.3:c.2506G>A	XP_011520783.1:p.Ala836Thr
XM_017023212.1:c.2680G>A	XP_016878701.1:p.Ala894Thr
XM_017023214.1:c.2848G>A	XP_016878703.1:p.Ala950Thr
XM_024450261.1:c.2884G>A	XP_024306029.1:p.Ala962Thr
XR_932836.2:n.3029G>A
XR_932837.3:n.3029G>A
XR_932838.3:n.3029G>A
NM_001171.6:c.2848G>A MANE Select	NP_001162.5:p.Ala950Thr