Canonical Allele Identifier: CA394885010

Gene: ABCC6

Linked Data

• dbSNP Id: rs2047001838
• MyVariant Identifiers: chr16:g.16263682A>C (hg19) ; chr16:g.16169825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169825A>C , CM000678.2:g.16169825A>C	GRCh38
NC_000016.9:g.16263682A>C , CM000678.1:g.16263682A>C	GRCh37
NC_000016.8:g.16171183A>C	NCBI36
NG_007558.2:g.58647T>G
NG_007558.3:g.58793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2816T>G	ENSP00000483331.2:p.Leu939Arg
ENST00000205557.12:c.2816T>G MANE Select	ENSP00000205557.7:p.Leu939Arg
ENST00000205557.11:c.2816T>G	ENSP00000205557.7:p.Leu939Arg
ENST00000456970.6:c.2641T>G	ENSP00000405002.2:n.2641T>G
ENST00000622290.4:c.*25T>G	ENSP00000483331.1:n.*25T>G
NM_001171.5:c.2816T>G	NP_001162.4:p.Leu939Arg
XM_011522479.1:c.2783T>G	XP_011520781.1:p.Leu928Arg
XM_011522480.1:c.2474T>G	XP_011520782.1:p.Leu825Arg
XM_011522481.1:c.2474T>G	XP_011520783.1:p.Leu825Arg
XR_932836.1:n.3051T>G
XR_932837.1:n.3052T>G
XR_932838.1:n.3052T>G
NM_001351800.1:c.2474T>G	NP_001338729.1:p.Leu825Arg
NR_147784.1:n.2678T>G
XM_011522479.2:c.2783T>G	XP_011520781.1:p.Leu928Arg
XM_011522481.3:c.2474T>G	XP_011520783.1:p.Leu825Arg
XM_017023212.1:c.2648T>G	XP_016878701.1:p.Leu883Arg
XM_017023214.1:c.2816T>G	XP_016878703.1:p.Leu939Arg
XM_024450261.1:c.2852T>G	XP_024306029.1:p.Leu951Arg
XR_932836.2:n.2997T>G
XR_932837.3:n.2997T>G
XR_932838.3:n.2997T>G
NM_001171.6:c.2816T>G MANE Select	NP_001162.5:p.Leu939Arg