Canonical Allele Identifier: CA278674916

Gene: ABCC6

Linked Data

• dbSNP Id: rs781078594
• gnomAD v4: 16-16150007-C-G
• MyVariant Identifiers: chr16:g.16243864C>G (hg19) ; chr16:g.16150007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150007C>G , CM000678.2:g.16150007C>G	GRCh38
NC_000016.9:g.16243864C>G , CM000678.1:g.16243864C>G	GRCh37
NC_000016.8:g.16151365C>G	NCBI36
NG_007558.2:g.78465G>C
NG_007558.3:g.78611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*810G>C	ENSP00000483331.2:n.*810G>C
ENST00000205557.12:c.*126G>C MANE Select	ENSP00000205557.7:n.*126G>C
ENST00000640696.1:c.1452G>C	ENSP00000492197.1:n.1452G>C
ENST00000205557.11:c.*126G>C	ENSP00000205557.7:n.*126G>C
ENST00000576204.5:n.1501G>C
ENST00000622290.4:c.*1847G>C	ENSP00000483331.1:n.*1847G>C
NM_001171.5:c.*126G>C	NP_001162.4:n.*126G>C
XM_011522479.1:c.*126G>C	XP_011520781.1:n.*126G>C
XM_011522480.1:c.*126G>C	XP_011520782.1:n.*126G>C
XM_011522481.1:c.*126G>C	XP_011520783.1:n.*126G>C
XR_933134.1:n.538+5717C>G
NM_001351800.1:c.*126G>C	NP_001338729.1:n.*126G>C
NR_147784.1:n.4300G>C
XM_011522479.2:c.*126G>C	XP_011520781.1:n.*126G>C
XM_011522481.3:c.*126G>C	XP_011520783.1:n.*126G>C
XM_017023212.1:c.*126G>C	XP_016878701.1:n.*126G>C
XM_024450261.1:c.*126G>C	XP_024306029.1:n.*126G>C
NM_001171.6:c.*126G>C MANE Select	NP_001162.5:n.*126G>C