Canonical Allele Identifier: CA7926273

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433236
• ClinVar RCV Id: RCV000499243 ; RCV001475971 ; RCV002496919 ; RCV004527608
• dbSNP Id: rs59157279
• ExAC: 16:16284116 C / T
• gnomAD v2: 16-16284116-C-T
• gnomAD v3: 16-16190259-C-T
• gnomAD v4: 16-16190259-C-T
• MyVariant Identifiers: chr16:g.16284116C>T (hg19) ; chr16:g.16190259C>T (hg38)
• PubMed: PMID:16086317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16190259C>T , CM000678.2:g.16190259C>T	GRCh38
NC_000016.9:g.16284116C>T , CM000678.1:g.16284116C>T	GRCh37
NC_000016.8:g.16191617C>T	NCBI36
NG_007558.2:g.38213G>A
NG_007558.3:g.38359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.1540G>A	ENSP00000483331.2:p.Val514Ile
ENST00000205557.12:c.1540G>A MANE Select	ENSP00000205557.7:p.Val514Ile
ENST00000205557.11:c.1540G>A	ENSP00000205557.7:p.Val514Ile
ENST00000456970.6:c.1540G>A	ENSP00000405002.2:p.Val514Ile
ENST00000574094.5:n.1636G>A
ENST00000622290.4:c.1540G>A	ENSP00000483331.1:p.Val514Ile
NM_001171.5:c.1540G>A	NP_001162.4:p.Val514Ile
XM_011522479.1:c.1540G>A	XP_011520781.1:p.Val514Ile
XM_011522480.1:c.1198G>A	XP_011520782.1:p.Val400Ile
XM_011522481.1:c.1198G>A	XP_011520783.1:p.Val400Ile
XM_011522482.1:c.1540G>A	XP_011520784.1:p.Val514Ile
XR_932836.1:n.1775G>A
XR_932837.1:n.1776G>A
XR_932838.1:n.1776G>A
NM_001351800.1:c.1198G>A	NP_001338729.1:p.Val400Ile
NR_147784.1:n.1577G>A
XM_011522479.2:c.1540G>A	XP_011520781.1:p.Val514Ile
XM_011522481.3:c.1198G>A	XP_011520783.1:p.Val400Ile
XM_011522482.3:c.1540G>A	XP_011520784.1:p.Val514Ile
XM_017023212.1:c.1540G>A	XP_016878701.1:p.Val514Ile
XM_017023214.1:c.1540G>A	XP_016878703.1:p.Val514Ile
XM_024450261.1:c.1576G>A	XP_024306029.1:p.Val526Ile
XR_932836.2:n.1721G>A
XR_932837.3:n.1721G>A
XR_932838.3:n.1721G>A
NM_001171.6:c.1540G>A MANE Select	NP_001162.5:p.Val514Ile