Canonical Allele Identifier: CA2631961148

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149793-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149793A>C , CM000678.2:g.16149793A>C	GRCh38
NC_000016.9:g.16243650A>C , CM000678.1:g.16243650A>C	GRCh37
NC_000016.8:g.16151151A>C	NCBI36
NG_007558.2:g.78679T>G
NG_007558.3:g.78825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1024T>G	ENSP00000483331.2:n.*1024T>G
ENST00000205557.12:c.*340T>G MANE Select	ENSP00000205557.7:n.*340T>G
ENST00000640696.1:c.1666T>G	ENSP00000492197.1:n.1666T>G
ENST00000205557.11:c.*340T>G	ENSP00000205557.7:n.*340T>G
ENST00000576204.5:n.1715T>G
ENST00000622290.4:c.*2061T>G	ENSP00000483331.1:n.*2061T>G
NM_001171.5:c.*340T>G	NP_001162.4:n.*340T>G
XM_011522479.1:c.*340T>G	XP_011520781.1:n.*340T>G
XM_011522480.1:c.*340T>G	XP_011520782.1:n.*340T>G
XM_011522481.1:c.*340T>G	XP_011520783.1:n.*340T>G
XR_933134.1:n.538+5503A>C
NM_001351800.1:c.*340T>G	NP_001338729.1:n.*340T>G
NR_147784.1:n.4514T>G
XM_011522479.2:c.*340T>G	XP_011520781.1:n.*340T>G
XM_011522481.3:c.*340T>G	XP_011520783.1:n.*340T>G
XM_017023212.1:c.*340T>G	XP_016878701.1:n.*340T>G
XM_024450261.1:c.*340T>G	XP_024306029.1:n.*340T>G
NM_001171.6:c.*340T>G MANE Select	NP_001162.5:n.*340T>G