Canonical Allele Identifier: CA2631961403

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149943-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149943A>G , CM000678.2:g.16149943A>G	GRCh38
NC_000016.9:g.16243800A>G , CM000678.1:g.16243800A>G	GRCh37
NC_000016.8:g.16151301A>G	NCBI36
NG_007558.2:g.78529T>C
NG_007558.3:g.78675T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*874T>C	ENSP00000483331.2:n.*874T>C
ENST00000205557.12:c.*190T>C MANE Select	ENSP00000205557.7:n.*190T>C
ENST00000640696.1:c.1516T>C	ENSP00000492197.1:n.1516T>C
ENST00000205557.11:c.*190T>C	ENSP00000205557.7:n.*190T>C
ENST00000576204.5:n.1565T>C
ENST00000622290.4:c.*1911T>C	ENSP00000483331.1:n.*1911T>C
NM_001171.5:c.*190T>C	NP_001162.4:n.*190T>C
XM_011522479.1:c.*190T>C	XP_011520781.1:n.*190T>C
XM_011522480.1:c.*190T>C	XP_011520782.1:n.*190T>C
XM_011522481.1:c.*190T>C	XP_011520783.1:n.*190T>C
XR_933134.1:n.538+5653A>G
NM_001351800.1:c.*190T>C	NP_001338729.1:n.*190T>C
NR_147784.1:n.4364T>C
XM_011522479.2:c.*190T>C	XP_011520781.1:n.*190T>C
XM_011522481.3:c.*190T>C	XP_011520783.1:n.*190T>C
XM_017023212.1:c.*190T>C	XP_016878701.1:n.*190T>C
XM_024450261.1:c.*190T>C	XP_024306029.1:n.*190T>C
NM_001171.6:c.*190T>C MANE Select	NP_001162.5:n.*190T>C