Canonical Allele Identifier: CA394878685

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159492-G-C
• MyVariant Identifiers: chr16:g.16253349G>C (hg19) ; chr16:g.16159492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159492G>C , CM000678.2:g.16159492G>C	GRCh38
NC_000016.9:g.16253349G>C , CM000678.1:g.16253349G>C	GRCh37
NC_000016.8:g.16160850G>C	NCBI36
NG_007558.2:g.68980C>G
NG_007558.3:g.69126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3725C>G	ENSP00000483331.2:p.Thr1242Arg
ENST00000205557.12:c.3725C>G MANE Select	ENSP00000205557.7:p.Thr1242Arg
ENST00000640696.1:c.539C>G	ENSP00000492197.1:p.Thr180Arg
ENST00000205557.11:c.3725C>G	ENSP00000205557.7:p.Thr1242Arg
ENST00000456970.6:c.3350C>G	ENSP00000405002.2:n.3350C>G
ENST00000622290.4:c.*934C>G	ENSP00000483331.1:n.*934C>G
NM_001171.5:c.3725C>G	NP_001162.4:p.Thr1242Arg
XM_011522479.1:c.3692C>G	XP_011520781.1:p.Thr1231Arg
XM_011522480.1:c.3383C>G	XP_011520782.1:p.Thr1128Arg
XM_011522481.1:c.3383C>G	XP_011520783.1:p.Thr1128Arg
XR_932836.1:n.3960C>G
XR_932837.1:n.3761C>G
XR_932838.1:n.3761C>G
XR_933134.1:n.539-289G>C
NM_001351800.1:c.3383C>G	NP_001338729.1:p.Thr1128Arg
NR_147784.1:n.3387C>G
XM_011522479.2:c.3692C>G	XP_011520781.1:p.Thr1231Arg
XM_011522481.3:c.3383C>G	XP_011520783.1:p.Thr1128Arg
XM_017023212.1:c.3557C>G	XP_016878701.1:p.Thr1186Arg
XM_024450261.1:c.3761C>G	XP_024306029.1:p.Thr1254Arg
XR_932836.2:n.3906C>G
XR_932837.3:n.3706C>G
XR_932838.3:n.3706C>G
NM_001171.6:c.3725C>G MANE Select	NP_001162.5:p.Thr1242Arg