Canonical Allele Identifier: CA2631961981

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150256-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150256G>C , CM000678.2:g.16150256G>C	GRCh38
NC_000016.9:g.16244113G>C , CM000678.1:g.16244113G>C	GRCh37
NC_000016.8:g.16151614G>C	NCBI36
NG_007558.2:g.78216C>G
NG_007558.3:g.78362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*576-15C>G	ENSP00000483331.2:n.*576-15C>G
ENST00000205557.12:c.4404-15C>G MANE Select	ENSP00000205557.7:n.4404-15C>G
ENST00000640696.1:c.1218-15C>G	ENSP00000492197.1:n.1218-15C>G
ENST00000205557.11:c.4404-15C>G	ENSP00000205557.7:n.4404-15C>G
ENST00000456970.6:c.4029-15C>G	ENSP00000405002.2:n.4029-15C>G
ENST00000576204.5:n.1267-15C>G
ENST00000622290.4:c.*1613-15C>G	ENSP00000483331.1:n.*1613-15C>G
NM_001171.5:c.4404-15C>G	NP_001162.4:n.4404-15C>G
XM_011522479.1:c.4371-15C>G	XP_011520781.1:n.4371-15C>G
XM_011522480.1:c.4062-15C>G	XP_011520782.1:n.4062-15C>G
XM_011522481.1:c.4062-15C>G	XP_011520783.1:n.4062-15C>G
XR_933134.1:n.538+5966G>C
NM_001351800.1:c.4062-15C>G	NP_001338729.1:n.4062-15C>G
NR_147784.1:n.4066-15C>G
XM_011522479.2:c.4371-15C>G	XP_011520781.1:n.4371-15C>G
XM_011522481.3:c.4062-15C>G	XP_011520783.1:n.4062-15C>G
XM_017023212.1:c.4236-15C>G	XP_016878701.1:n.4236-15C>G
XM_024450261.1:c.4440-15C>G	XP_024306029.1:n.4440-15C>G
NM_001171.6:c.4404-15C>G MANE Select	NP_001162.5:n.4404-15C>G