Canonical Allele Identifier: CA2631958744

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154615-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154615G>A , CM000678.2:g.16154615G>A	GRCh38
NC_000016.9:g.16248472G>A , CM000678.1:g.16248472G>A	GRCh37
NC_000016.8:g.16155973G>A	NCBI36
NG_007558.2:g.73857C>T
NG_007558.3:g.74003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+13C>T	ENSP00000483331.2:n.*380+13C>T
ENST00000205557.12:c.4208+13C>T MANE Select	ENSP00000205557.7:n.4208+13C>T
ENST00000640696.1:c.1022+13C>T	ENSP00000492197.1:n.1022+13C>T
ENST00000205557.11:c.4208+13C>T	ENSP00000205557.7:n.4208+13C>T
ENST00000456970.6:c.3833+13C>T	ENSP00000405002.2:n.3833+13C>T
ENST00000576204.5:n.1071+13C>T
ENST00000622290.4:c.*1417+13C>T	ENSP00000483331.1:n.*1417+13C>T
NM_001171.5:c.4208+13C>T	NP_001162.4:n.4208+13C>T
XM_011522479.1:c.4175+13C>T	XP_011520781.1:n.4175+13C>T
XM_011522480.1:c.3866+13C>T	XP_011520782.1:n.3866+13C>T
XM_011522481.1:c.3866+13C>T	XP_011520783.1:n.3866+13C>T
XR_933134.1:n.539-5166G>A
NM_001351800.1:c.3866+13C>T	NP_001338729.1:n.3866+13C>T
NR_147784.1:n.3870+13C>T
XM_011522479.2:c.4175+13C>T	XP_011520781.1:n.4175+13C>T
XM_011522481.3:c.3866+13C>T	XP_011520783.1:n.3866+13C>T
XM_017023212.1:c.4040+13C>T	XP_016878701.1:n.4040+13C>T
XM_024450261.1:c.4244+13C>T	XP_024306029.1:n.4244+13C>T
NM_001171.6:c.4208+13C>T MANE Select	NP_001162.5:n.4208+13C>T