Canonical Allele Identifier: CA278676753

Gene: ABCC6

Linked Data

• dbSNP Id: rs971553545
• gnomAD v4: 16-16154529-A-T
• MyVariant Identifiers: chr16:g.16248386A>T (hg19) ; chr16:g.16154529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154529A>T , CM000678.2:g.16154529A>T	GRCh38
NC_000016.9:g.16248386A>T , CM000678.1:g.16248386A>T	GRCh37
NC_000016.8:g.16155887A>T	NCBI36
NG_007558.2:g.73943T>A
NG_007558.3:g.74089T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+99T>A	ENSP00000483331.2:n.*380+99T>A
ENST00000205557.12:c.4208+99T>A MANE Select	ENSP00000205557.7:n.4208+99T>A
ENST00000640696.1:c.1022+99T>A	ENSP00000492197.1:n.1022+99T>A
ENST00000205557.11:c.4208+99T>A	ENSP00000205557.7:n.4208+99T>A
ENST00000456970.6:c.3833+99T>A	ENSP00000405002.2:n.3833+99T>A
ENST00000576204.5:n.1071+99T>A
ENST00000622290.4:c.*1417+99T>A	ENSP00000483331.1:n.*1417+99T>A
NM_001171.5:c.4208+99T>A	NP_001162.4:n.4208+99T>A
XM_011522479.1:c.4175+99T>A	XP_011520781.1:n.4175+99T>A
XM_011522480.1:c.3866+99T>A	XP_011520782.1:n.3866+99T>A
XM_011522481.1:c.3866+99T>A	XP_011520783.1:n.3866+99T>A
XR_933134.1:n.539-5252A>T
NM_001351800.1:c.3866+99T>A	NP_001338729.1:n.3866+99T>A
NR_147784.1:n.3870+99T>A
XM_011522479.2:c.4175+99T>A	XP_011520781.1:n.4175+99T>A
XM_011522481.3:c.3866+99T>A	XP_011520783.1:n.3866+99T>A
XM_017023212.1:c.4040+99T>A	XP_016878701.1:n.4040+99T>A
XM_024450261.1:c.4244+99T>A	XP_024306029.1:n.4244+99T>A
NM_001171.6:c.4208+99T>A MANE Select	NP_001162.5:n.4208+99T>A