Canonical Allele Identifier: CA7925382

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433394
• ClinVar RCV Id: RCV000499155 ; RCV001383426 ; RCV002490820
• dbSNP Id: rs72664214
• ExAC: 16:16248894 C / T
• gnomAD v2: 16-16248894-C-T
• gnomAD v3: 16-16155037-C-T
• gnomAD v4: 16-16155037-C-T
• MyVariant Identifiers: chr16:g.16248894C>T (hg19) ; chr16:g.16155037C>T (hg38)
• PubMed: PMID:16086317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155037C>T , CM000678.2:g.16155037C>T	GRCh38
NC_000016.9:g.16248894C>T , CM000678.1:g.16248894C>T	GRCh37
NC_000016.8:g.16156395C>T	NCBI36
NG_007558.2:g.73435G>A
NG_007558.3:g.73581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.740G>A
ENST00000622290.5:c.*55-6G>A	ENSP00000483331.2:n.*55-6G>A
ENST00000205557.12:c.3883-6G>A MANE Select	ENSP00000205557.7:n.3883-6G>A
ENST00000640696.1:c.697-6G>A	ENSP00000492197.1:n.697-6G>A
ENST00000205557.11:c.3883-6G>A	ENSP00000205557.7:n.3883-6G>A
ENST00000456970.6:c.3508-6G>A	ENSP00000405002.2:n.3508-6G>A
ENST00000576204.5:n.740G>A
ENST00000622290.4:c.*1092-6G>A	ENSP00000483331.1:n.*1092-6G>A
NM_001171.5:c.3883-6G>A	NP_001162.4:n.3883-6G>A
XM_011522479.1:c.3850-6G>A	XP_011520781.1:n.3850-6G>A
XM_011522480.1:c.3541-6G>A	XP_011520782.1:n.3541-6G>A
XM_011522481.1:c.3541-6G>A	XP_011520783.1:n.3541-6G>A
XR_932836.1:n.4181-6G>A
XR_932837.1:n.3919-6G>A
XR_932838.1:n.3982-6G>A
XR_933134.1:n.539-4744C>T
NM_001351800.1:c.3541-6G>A	NP_001338729.1:n.3541-6G>A
NR_147784.1:n.3545-6G>A
XM_011522479.2:c.3850-6G>A	XP_011520781.1:n.3850-6G>A
XM_011522481.3:c.3541-6G>A	XP_011520783.1:n.3541-6G>A
XM_017023212.1:c.3715-6G>A	XP_016878701.1:n.3715-6G>A
XM_024450261.1:c.3919-6G>A	XP_024306029.1:n.3919-6G>A
XR_932836.2:n.4127-6G>A
XR_932837.3:n.3864-6G>A
XR_932838.3:n.3927-6G>A
NM_001171.6:c.3883-6G>A MANE Select	NP_001162.5:n.3883-6G>A