Canonical Allele Identifier: CA394878736

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159513-C-A
• MyVariant Identifiers: chr16:g.16253370C>A (hg19) ; chr16:g.16159513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159513C>A , CM000678.2:g.16159513C>A	GRCh38
NC_000016.9:g.16253370C>A , CM000678.1:g.16253370C>A	GRCh37
NC_000016.8:g.16160871C>A	NCBI36
NG_007558.2:g.68959G>T
NG_007558.3:g.69105G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3704G>T	ENSP00000483331.2:p.Arg1235Leu
ENST00000205557.12:c.3704G>T MANE Select	ENSP00000205557.7:p.Arg1235Leu
ENST00000640696.1:c.518G>T	ENSP00000492197.1:p.Arg173Leu
ENST00000205557.11:c.3704G>T	ENSP00000205557.7:p.Arg1235Leu
ENST00000456970.6:c.3329G>T	ENSP00000405002.2:n.3329G>T
ENST00000622290.4:c.*913G>T	ENSP00000483331.1:n.*913G>T
NM_001171.5:c.3704G>T	NP_001162.4:p.Arg1235Leu
XM_011522479.1:c.3671G>T	XP_011520781.1:p.Arg1224Leu
XM_011522480.1:c.3362G>T	XP_011520782.1:p.Arg1121Leu
XM_011522481.1:c.3362G>T	XP_011520783.1:p.Arg1121Leu
XR_932836.1:n.3939G>T
XR_932837.1:n.3740G>T
XR_932838.1:n.3740G>T
XR_933134.1:n.539-268C>A
NM_001351800.1:c.3362G>T	NP_001338729.1:p.Arg1121Leu
NR_147784.1:n.3366G>T
XM_011522479.2:c.3671G>T	XP_011520781.1:p.Arg1224Leu
XM_011522481.3:c.3362G>T	XP_011520783.1:p.Arg1121Leu
XM_017023212.1:c.3536G>T	XP_016878701.1:p.Arg1179Leu
XM_024450261.1:c.3740G>T	XP_024306029.1:p.Arg1247Leu
XR_932836.2:n.3885G>T
XR_932837.3:n.3685G>T
XR_932838.3:n.3685G>T
NM_001171.6:c.3704G>T MANE Select	NP_001162.5:p.Arg1235Leu