Canonical Allele Identifier: CA394884698

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154743-C-T
• MyVariant Identifiers: chr16:g.16248600C>T (hg19) ; chr16:g.16154743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154743C>T , CM000678.2:g.16154743C>T	GRCh38
NC_000016.9:g.16248600C>T , CM000678.1:g.16248600C>T	GRCh37
NC_000016.8:g.16156101C>T	NCBI36
NG_007558.2:g.73729G>A
NG_007558.3:g.73875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.956G>A
ENST00000622290.5:c.*265G>A	ENSP00000483331.2:n.*265G>A
ENST00000205557.12:c.4093G>A MANE Select	ENSP00000205557.7:p.Glu1365Lys
ENST00000640696.1:c.907G>A	ENSP00000492197.1:p.Glu303Lys
ENST00000205557.11:c.4093G>A	ENSP00000205557.7:p.Glu1365Lys
ENST00000456970.6:c.3718G>A	ENSP00000405002.2:n.3718G>A
ENST00000576204.5:n.956G>A
ENST00000622290.4:c.*1302G>A	ENSP00000483331.1:n.*1302G>A
NM_001171.5:c.4093G>A	NP_001162.4:p.Glu1365Lys
XM_011522479.1:c.4060G>A	XP_011520781.1:p.Glu1354Lys
XM_011522480.1:c.3751G>A	XP_011520782.1:p.Glu1251Lys
XM_011522481.1:c.3751G>A	XP_011520783.1:p.Glu1251Lys
XR_933134.1:n.539-5038C>T
NM_001351800.1:c.3751G>A	NP_001338729.1:p.Glu1251Lys
NR_147784.1:n.3755G>A
XM_011522479.2:c.4060G>A	XP_011520781.1:p.Glu1354Lys
XM_011522481.3:c.3751G>A	XP_011520783.1:p.Glu1251Lys
XM_017023212.1:c.3925G>A	XP_016878701.1:p.Glu1309Lys
XM_024450261.1:c.4129G>A	XP_024306029.1:p.Glu1377Lys
NM_001171.6:c.4093G>A MANE Select	NP_001162.5:p.Glu1365Lys