Canonical Allele Identifier: CA394886969

Gene: ABCC6

Linked Data

• dbSNP Id: rs72653800
• gnomAD v3: 16-16175934-C-T
• gnomAD v4: 16-16175934-C-T
• MyVariant Identifiers: chr16:g.16269791C>T (hg19) ; chr16:g.16175934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16175934C>T , CM000678.2:g.16175934C>T	GRCh38
NC_000016.9:g.16269791C>T , CM000678.1:g.16269791C>T	GRCh37
NC_000016.8:g.16177292C>T	NCBI36
NG_007558.2:g.52538G>A
NG_007558.3:g.52684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2643G>A	ENSP00000483331.2:p.Arg881=
ENST00000205557.12:c.2643G>A MANE Select	ENSP00000205557.7:p.Arg881=
ENST00000205557.11:c.2643G>A	ENSP00000205557.7:p.Arg881=
ENST00000456970.6:c.2468G>A	ENSP00000405002.2:p.Gly823Glu
ENST00000576683.1:n.130G>A
ENST00000622290.4:c.2468G>A	ENSP00000483331.1:p.Gly823Glu
NM_001171.5:c.2643G>A	NP_001162.4:p.Arg881=
XM_011522479.1:c.2610G>A	XP_011520781.1:p.Arg870=
XM_011522480.1:c.2301G>A	XP_011520782.1:p.Arg767=
XM_011522481.1:c.2301G>A	XP_011520783.1:p.Arg767=
XM_011522482.1:c.2650G>A	XP_011520784.1:p.Glu884Lys
XR_932836.1:n.2878G>A
XR_932837.1:n.2879G>A
XR_932838.1:n.2879G>A
NM_001351800.1:c.2301G>A	NP_001338729.1:p.Arg767=
NR_147784.1:n.2505G>A
XM_011522479.2:c.2610G>A	XP_011520781.1:p.Arg870=
XM_011522481.3:c.2301G>A	XP_011520783.1:p.Arg767=
XM_011522482.3:c.2650G>A	XP_011520784.1:p.Glu884Lys
XM_017023212.1:c.2475G>A	XP_016878701.1:p.Arg825=
XM_017023214.1:c.2643G>A	XP_016878703.1:p.Arg881=
XM_024450261.1:c.2679G>A	XP_024306029.1:p.Arg893=
XR_932836.2:n.2824G>A
XR_932837.3:n.2824G>A
XR_932838.3:n.2824G>A
NM_001171.6:c.2643G>A MANE Select	NP_001162.5:p.Arg881=