Canonical Allele Identifier: CA2573151854

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1348602
• ClinVar RCV Id: RCV002050871
• dbSNP Id: rs2152211817

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154622C>T , CM000678.2:g.16154622C>T	GRCh38
NC_000016.9:g.16248479C>T , CM000678.1:g.16248479C>T	GRCh37
NC_000016.8:g.16155980C>T	NCBI36
NG_007558.2:g.73850G>A
NG_007558.3:g.73996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+6G>A	ENSP00000483331.2:n.*380+6G>A
ENST00000205557.12:c.4208+6G>A MANE Select	ENSP00000205557.7:n.4208+6G>A
ENST00000640696.1:c.1022+6G>A	ENSP00000492197.1:n.1022+6G>A
ENST00000205557.11:c.4208+6G>A	ENSP00000205557.7:n.4208+6G>A
ENST00000456970.6:c.3833+6G>A	ENSP00000405002.2:n.3833+6G>A
ENST00000576204.5:n.1071+6G>A
ENST00000622290.4:c.*1417+6G>A	ENSP00000483331.1:n.*1417+6G>A
NM_001171.5:c.4208+6G>A	NP_001162.4:n.4208+6G>A
XM_011522479.1:c.4175+6G>A	XP_011520781.1:n.4175+6G>A
XM_011522480.1:c.3866+6G>A	XP_011520782.1:n.3866+6G>A
XM_011522481.1:c.3866+6G>A	XP_011520783.1:n.3866+6G>A
XR_933134.1:n.539-5159C>T
NM_001351800.1:c.3866+6G>A	NP_001338729.1:n.3866+6G>A
NR_147784.1:n.3870+6G>A
XM_011522479.2:c.4175+6G>A	XP_011520781.1:n.4175+6G>A
XM_011522481.3:c.3866+6G>A	XP_011520783.1:n.3866+6G>A
XM_017023212.1:c.4040+6G>A	XP_016878701.1:n.4040+6G>A
XM_024450261.1:c.4244+6G>A	XP_024306029.1:n.4244+6G>A
NM_001171.6:c.4208+6G>A MANE Select	NP_001162.5:n.4208+6G>A