Canonical Allele Identifier: CA394884679

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154738-G-C
• MyVariant Identifiers: chr16:g.16248595G>C (hg19) ; chr16:g.16154738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154738G>C , CM000678.2:g.16154738G>C	GRCh38
NC_000016.9:g.16248595G>C , CM000678.1:g.16248595G>C	GRCh37
NC_000016.8:g.16156096G>C	NCBI36
NG_007558.2:g.73734C>G
NG_007558.3:g.73880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.961C>G
ENST00000622290.5:c.*270C>G	ENSP00000483331.2:n.*270C>G
ENST00000205557.12:c.4098C>G MANE Select	ENSP00000205557.7:p.His1366Gln
ENST00000640696.1:c.912C>G	ENSP00000492197.1:p.His304Gln
ENST00000205557.11:c.4098C>G	ENSP00000205557.7:p.His1366Gln
ENST00000456970.6:c.3723C>G	ENSP00000405002.2:n.3723C>G
ENST00000576204.5:n.961C>G
ENST00000622290.4:c.*1307C>G	ENSP00000483331.1:n.*1307C>G
NM_001171.5:c.4098C>G	NP_001162.4:p.His1366Gln
XM_011522479.1:c.4065C>G	XP_011520781.1:p.His1355Gln
XM_011522480.1:c.3756C>G	XP_011520782.1:p.His1252Gln
XM_011522481.1:c.3756C>G	XP_011520783.1:p.His1252Gln
XR_933134.1:n.539-5043G>C
NM_001351800.1:c.3756C>G	NP_001338729.1:p.His1252Gln
NR_147784.1:n.3760C>G
XM_011522479.2:c.4065C>G	XP_011520781.1:p.His1355Gln
XM_011522481.3:c.3756C>G	XP_011520783.1:p.His1252Gln
XM_017023212.1:c.3930C>G	XP_016878701.1:p.His1310Gln
XM_024450261.1:c.4134C>G	XP_024306029.1:p.His1378Gln
NM_001171.6:c.4098C>G MANE Select	NP_001162.5:p.His1366Gln