Canonical Allele Identifier: CA7925579

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1353117
• ClinVar RCV Id: RCV001869921 ; RCV002506883
• dbSNP Id: rs762758350
• ExAC: 16:16256899 G / A
• gnomAD v2: 16-16256899-G-A
• gnomAD v3: 16-16163042-G-A
• gnomAD v4: 16-16163042-G-A
• MyVariant Identifiers: chr16:g.16256899G>A (hg19) ; chr16:g.16163042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163042G>A , CM000678.2:g.16163042G>A	GRCh38
NC_000016.9:g.16256899G>A , CM000678.1:g.16256899G>A	GRCh37
NC_000016.8:g.16164400G>A	NCBI36
NG_007558.2:g.65430C>T
NG_007558.3:g.65576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3457C>T	ENSP00000483331.2:p.Arg1153Cys
ENST00000205557.12:c.3457C>T MANE Select	ENSP00000205557.7:p.Arg1153Cys
ENST00000640696.1:c.321-1478C>T	ENSP00000492197.1:n.321-1478C>T
ENST00000205557.11:c.3457C>T	ENSP00000205557.7:p.Arg1153Cys
ENST00000456970.6:c.3132-1478C>T	ENSP00000405002.2:n.3132-1478C>T
ENST00000622290.4:c.*666C>T	ENSP00000483331.1:n.*666C>T
NM_001171.5:c.3457C>T	NP_001162.4:p.Arg1153Cys
XM_011522479.1:c.3424C>T	XP_011520781.1:p.Arg1142Cys
XM_011522480.1:c.3115C>T	XP_011520782.1:p.Arg1039Cys
XM_011522481.1:c.3115C>T	XP_011520783.1:p.Arg1039Cys
XR_932836.1:n.3692C>T
XR_932837.1:n.3543-1478C>T
XR_932838.1:n.3543-1478C>T
XR_933133.1:n.407+199G>A
XR_933134.1:n.754+199G>A
NM_001351800.1:c.3115C>T	NP_001338729.1:p.Arg1039Cys
NR_147784.1:n.3169-1478C>T
XM_011522479.2:c.3424C>T	XP_011520781.1:p.Arg1142Cys
XM_011522481.3:c.3115C>T	XP_011520783.1:p.Arg1039Cys
XM_017023212.1:c.3289C>T	XP_016878701.1:p.Arg1097Cys
XM_017023214.1:c.3307-1478C>T	XP_016878703.1:n.3307-1478C>T
XM_024450261.1:c.3493C>T	XP_024306029.1:p.Arg1165Cys
XR_932836.2:n.3638C>T
XR_932837.3:n.3488-1478C>T
XR_932838.3:n.3488-1478C>T
NM_001171.6:c.3457C>T MANE Select	NP_001162.5:p.Arg1153Cys